Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523536_131523537insCTG , CM000671.2:g.131523536_131523537insCTG	GRCh38
NC_000009.11:g.134398923_134398924insCTG , CM000671.1:g.134398923_134398924insCTG	GRCh37
NC_000009.10:g.133388744_133388745insCTG	NCBI36
NG_008896.1:g.25635_25636insCTG
NG_008896.2:g.25635_25636insCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.430_431insCTG	ENSP00000343034.7:n.430_431insCTG
ENST00000404875.7:n.3148_3149insCTG
ENST00000677295.2:c.2952_2953insCTG	ENSP00000504346.2:n.2952_2953insCTG
ENST00000678264.2:c.2791_2792insCTG	ENSP00000503157.2:n.2791_2792insCTG
ENST00000682070.1:n.2918_2919insCTG
ENST00000682639.1:c.313_314insCTG
ENST00000682813.1:n.3005_3006insCTG
ENST00000683231.1:c.458_459insCTG
ENST00000683392.1:n.5200_5201insCTG
ENST00000683900.1:n.4508_4509insCTG
ENST00000684062.1:n.3274_3275insCTG
ENST00000684399.1:c.423_424insCTG
ENST00000684579.1:n.4454_4455insCTG
ENST00000341012.12:c.430_431insCTG	ENSP00000343034.7:n.430_431insCTG
ENST00000372220.5:c.430_431insCTG	ENSP00000361294.5:n.430_431insCTG
ENST00000372228.9:c.430_431insCTG	ENSP00000361302.3:n.430_431insCTG
ENST00000402686.8:c.430_431insCTG MANE Select	ENSP00000385797.4:n.430_431insCTG
ENST00000676640.1:c.430_431insCTG	ENSP00000503281.1:n.430_431insCTG
ENST00000676803.1:c.430_431insCTG	ENSP00000503093.1:n.430_431insCTG
ENST00000676835.1:c.1823_1824insCTG	ENSP00000502911.1:n.1823_1824insCTG
ENST00000677295.1:c.1830_1831insCTG	ENSP00000504346.1:n.1830_1831insCTG
ENST00000677444.1:c.2553_2554insCTG
ENST00000677626.1:c.430_431insCTG	ENSP00000503552.1:n.430_431insCTG
ENST00000677853.1:c.1616_1617insCTG	ENSP00000503488.1:n.1616_1617insCTG
ENST00000678546.1:c.2553_2554insCTG	ENSP00000503062.1:n.2553_2554insCTG
ENST00000678548.1:c.2747_2748insCTG	ENSP00000503934.1:n.2747_2748insCTG
ENST00000678626.1:n.2444_2445insCTG
ENST00000678739.1:c.2774_2775insCTG	ENSP00000503806.1:n.2774_2775insCTG
ENST00000678833.1:c.2360_2361insCTG	ENSP00000503893.1:n.2360_2361insCTG
ENST00000679023.1:c.254_255insCTG	ENSP00000503718.1:n.254_255insCTG
ENST00000679076.1:c.2227_2228insCTG
ENST00000679111.1:c.1364_1365insCTG	ENSP00000504257.1:n.1364_1365insCTG
ENST00000341012.11:c.430_431insCTG	ENSP00000343034.7:n.430_431insCTG
ENST00000372220.4:c.1471_1472insCTG	ENSP00000361294.4:n.1471_1472insCTG
ENST00000372228.7:c.430_431insCTG	ENSP00000361302.3:n.430_431insCTG
ENST00000402686.7:c.430_431insCTG	ENSP00000385797.3:n.430_431insCTG
ENST00000404875.6:c.430_431insCTG	ENSP00000384531.2:n.430_431insCTG
ENST00000423007.5:c.430_431insCTG	ENSP00000404119.1:n.430_431insCTG
ENST00000485278.5:n.3158_3159insCTG
NM_001077365.1:c.430_431insCTG	NP_001070833.1:n.430_431insCTG
NM_001077366.1:c.430_431insCTG	NP_001070834.1:n.430_431insCTG
NM_001136113.1:c.430_431insCTG	NP_001129585.1:n.430_431insCTG
NM_001136114.1:c.430_431insCTG	NP_001129586.1:n.430_431insCTG
NM_007171.3:c.430_431insCTG	NP_009102.3:n.430_431insCTG
XM_005272156.1:c.430_431insCTG	XP_005272213.1:n.430_431insCTG
XM_005272158.1:c.430_431insCTG	XP_005272215.1:n.430_431insCTG
XM_005272159.1:c.430_431insCTG	XP_005272216.1:n.430_431insCTG
XM_005272162.1:c.430_431insCTG	XP_005272219.1:n.430_431insCTG
XM_006716932.1:c.430_431insCTG	XP_006716995.1:n.430_431insCTG
XM_011518140.1:c.430_431insCTG	XP_011516442.1:n.430_431insCTG
XM_011518141.1:c.430_431insCTG	XP_011516443.1:n.430_431insCTG
XM_011518142.1:c.430_431insCTG	XP_011516444.1:n.430_431insCTG
XM_011518143.1:c.430_431insCTG	XP_011516445.1:n.430_431insCTG
XM_011518145.1:c.430_431insCTG	XP_011516447.1:n.430_431insCTG
XM_011518147.1:c.430_431insCTG	XP_011516449.1:n.430_431insCTG
XR_929703.1:n.2674_2675insCTG
NM_001353193.1:c.430_431insCTG	NP_001340122.1:n.430_431insCTG
NM_001353194.1:c.430_431insCTG	NP_001340123.1:n.430_431insCTG
NM_001353195.1:c.430_431insCTG	NP_001340124.1:n.430_431insCTG
NM_001353196.1:c.430_431insCTG	NP_001340125.1:n.430_431insCTG
NM_001353197.1:c.430_431insCTG	NP_001340126.1:n.430_431insCTG
NM_001353198.1:c.430_431insCTG	NP_001340127.1:n.430_431insCTG
NM_001353199.1:c.430_431insCTG	NP_001340128.1:n.430_431insCTG
NM_001353200.1:c.430_431insCTG	NP_001340129.1:n.430_431insCTG
NR_148391.1:n.2482_2483insCTG
NR_148392.1:n.2700_2701insCTG
NR_148393.1:n.2797_2798insCTG
NR_148394.1:n.2551_2552insCTG
NR_148395.1:n.2949_2950insCTG
NR_148396.1:n.2583_2584insCTG
NR_148397.1:n.2708_2709insCTG
NR_148398.1:n.2663_2664insCTG
NR_148399.1:n.3013_3014insCTG
NR_148400.1:n.2788_2789insCTG
XM_005272162.3:c.430_431insCTG	XP_005272219.1:n.430_431insCTG
XM_006716932.2:c.430_431insCTG	XP_006716995.1:n.430_431insCTG
XM_011518140.2:c.430_431insCTG	XP_011516442.1:n.430_431insCTG
XM_011518141.2:c.430_431insCTG	XP_011516443.1:n.430_431insCTG
XM_011518142.2:c.430_431insCTG	XP_011516444.1:n.430_431insCTG
XM_011518143.2:c.430_431insCTG	XP_011516445.1:n.430_431insCTG
XM_011518145.2:c.430_431insCTG	XP_011516447.1:n.430_431insCTG
XM_017014205.2:c.430_431insCTG	XP_016869694.1:n.430_431insCTG
XM_024447380.1:c.430_431insCTG	XP_024303148.1:n.430_431insCTG
XM_024447381.1:c.430_431insCTG	XP_024303149.1:n.430_431insCTG
XM_024447382.1:c.430_431insCTG	XP_024303150.1:n.430_431insCTG
XR_001746160.2:n.2602_2603insCTG
XR_001746162.2:n.2983_2984insCTG
XR_001746164.1:n.2700_2701insCTG
XR_001746166.2:n.2819_2820insCTG
NM_001077365.2:c.430_431insCTG MANE Select	NP_001070833.1:n.430_431insCTG
NM_001077366.2:c.430_431insCTG	NP_001070834.1:n.430_431insCTG
NM_001136113.2:c.430_431insCTG	NP_001129585.1:n.430_431insCTG
NM_001136114.2:c.430_431insCTG	NP_001129586.1:n.430_431insCTG
NM_001353193.2:c.430_431insCTG	NP_001340122.2:n.430_431insCTG
NM_001353194.2:c.430_431insCTG	NP_001340123.1:n.430_431insCTG
NM_001353195.2:c.430_431insCTG	NP_001340124.1:n.430_431insCTG
NM_001353196.2:c.430_431insCTG	NP_001340125.1:n.430_431insCTG
NM_001353197.2:c.430_431insCTG	NP_001340126.2:n.430_431insCTG
NM_001353198.2:c.430_431insCTG	NP_001340127.2:n.430_431insCTG
NM_001353199.2:c.430_431insCTG	NP_001340128.2:n.430_431insCTG
NM_001353200.2:c.430_431insCTG	NP_001340129.1:n.430_431insCTG
NM_001374689.1:c.430_431insCTG	NP_001361618.1:n.430_431insCTG
NM_001374690.1:c.430_431insCTG	NP_001361619.1:n.430_431insCTG
NM_001374691.1:c.430_431insCTG	NP_001361620.1:n.430_431insCTG
NM_001374692.1:c.430_431insCTG	NP_001361621.1:n.430_431insCTG
NM_001374693.1:c.430_431insCTG	NP_001361622.1:n.430_431insCTG
NM_001374695.1:c.430_431insCTG	NP_001361624.1:n.430_431insCTG
NM_007171.4:c.430_431insCTG	NP_009102.4:n.430_431insCTG
NR_148391.2:n.2466_2467insCTG
NR_148392.2:n.2684_2685insCTG
NR_148393.2:n.2781_2782insCTG
NR_148394.2:n.2535_2536insCTG
NR_148395.2:n.2933_2934insCTG
NR_148396.2:n.2567_2568insCTG
NR_148397.2:n.2692_2693insCTG
NR_148398.2:n.2647_2648insCTG
NR_148399.2:n.2997_2998insCTG
NR_148400.2:n.2772_2773insCTG

HGVS	Amino-acid Change
ENST00000341012.13:c.430_431insCTG	ENSP00000343034.7:n.430_431insCTG
ENST00000404875.7:n.3148_3149insCTG
ENST00000677295.2:c.2952_2953insCTG	ENSP00000504346.2:n.2952_2953insCTG
ENST00000678264.2:c.2791_2792insCTG	ENSP00000503157.2:n.2791_2792insCTG
ENST00000682070.1:n.2918_2919insCTG
ENST00000682639.1:c.313_314insCTG
ENST00000682813.1:n.3005_3006insCTG
ENST00000683231.1:c.458_459insCTG
ENST00000683392.1:n.5200_5201insCTG
ENST00000683900.1:n.4508_4509insCTG
ENST00000684062.1:n.3274_3275insCTG
ENST00000684399.1:c.423_424insCTG
ENST00000684579.1:n.4454_4455insCTG
ENST00000341012.12:c.430_431insCTG	ENSP00000343034.7:n.430_431insCTG
ENST00000372220.5:c.430_431insCTG	ENSP00000361294.5:n.430_431insCTG
ENST00000372228.9:c.430_431insCTG	ENSP00000361302.3:n.430_431insCTG
ENST00000402686.8:c.430_431insCTG MANE Select	ENSP00000385797.4:n.430_431insCTG
ENST00000676640.1:c.430_431insCTG	ENSP00000503281.1:n.430_431insCTG
ENST00000676803.1:c.430_431insCTG	ENSP00000503093.1:n.430_431insCTG
ENST00000676835.1:c.1823_1824insCTG	ENSP00000502911.1:n.1823_1824insCTG
ENST00000677295.1:c.1830_1831insCTG	ENSP00000504346.1:n.1830_1831insCTG
ENST00000677444.1:c.2553_2554insCTG
ENST00000677626.1:c.430_431insCTG	ENSP00000503552.1:n.430_431insCTG
ENST00000677853.1:c.1616_1617insCTG	ENSP00000503488.1:n.1616_1617insCTG
ENST00000678546.1:c.2553_2554insCTG	ENSP00000503062.1:n.2553_2554insCTG
ENST00000678548.1:c.2747_2748insCTG	ENSP00000503934.1:n.2747_2748insCTG
ENST00000678626.1:n.2444_2445insCTG
ENST00000678739.1:c.2774_2775insCTG	ENSP00000503806.1:n.2774_2775insCTG
ENST00000678833.1:c.2360_2361insCTG	ENSP00000503893.1:n.2360_2361insCTG
ENST00000679023.1:c.254_255insCTG	ENSP00000503718.1:n.254_255insCTG
ENST00000679076.1:c.2227_2228insCTG
ENST00000679111.1:c.1364_1365insCTG	ENSP00000504257.1:n.1364_1365insCTG
ENST00000341012.11:c.430_431insCTG	ENSP00000343034.7:n.430_431insCTG
ENST00000372220.4:c.1471_1472insCTG	ENSP00000361294.4:n.1471_1472insCTG
ENST00000372228.7:c.430_431insCTG	ENSP00000361302.3:n.430_431insCTG
ENST00000402686.7:c.430_431insCTG	ENSP00000385797.3:n.430_431insCTG
ENST00000404875.6:c.430_431insCTG	ENSP00000384531.2:n.430_431insCTG
ENST00000423007.5:c.430_431insCTG	ENSP00000404119.1:n.430_431insCTG
ENST00000485278.5:n.3158_3159insCTG
NM_001077365.1:c.430_431insCTG	NP_001070833.1:n.430_431insCTG
NM_001077366.1:c.430_431insCTG	NP_001070834.1:n.430_431insCTG
NM_001136113.1:c.430_431insCTG	NP_001129585.1:n.430_431insCTG
NM_001136114.1:c.430_431insCTG	NP_001129586.1:n.430_431insCTG
NM_007171.3:c.430_431insCTG	NP_009102.3:n.430_431insCTG
XM_005272156.1:c.430_431insCTG	XP_005272213.1:n.430_431insCTG
XM_005272158.1:c.430_431insCTG	XP_005272215.1:n.430_431insCTG
XM_005272159.1:c.430_431insCTG	XP_005272216.1:n.430_431insCTG
XM_005272162.1:c.430_431insCTG	XP_005272219.1:n.430_431insCTG
XM_006716932.1:c.430_431insCTG	XP_006716995.1:n.430_431insCTG
XM_011518140.1:c.430_431insCTG	XP_011516442.1:n.430_431insCTG
XM_011518141.1:c.430_431insCTG	XP_011516443.1:n.430_431insCTG
XM_011518142.1:c.430_431insCTG	XP_011516444.1:n.430_431insCTG
XM_011518143.1:c.430_431insCTG	XP_011516445.1:n.430_431insCTG
XM_011518145.1:c.430_431insCTG	XP_011516447.1:n.430_431insCTG
XM_011518147.1:c.430_431insCTG	XP_011516449.1:n.430_431insCTG
XR_929703.1:n.2674_2675insCTG
NM_001353193.1:c.430_431insCTG	NP_001340122.1:n.430_431insCTG
NM_001353194.1:c.430_431insCTG	NP_001340123.1:n.430_431insCTG
NM_001353195.1:c.430_431insCTG	NP_001340124.1:n.430_431insCTG
NM_001353196.1:c.430_431insCTG	NP_001340125.1:n.430_431insCTG
NM_001353197.1:c.430_431insCTG	NP_001340126.1:n.430_431insCTG
NM_001353198.1:c.430_431insCTG	NP_001340127.1:n.430_431insCTG
NM_001353199.1:c.430_431insCTG	NP_001340128.1:n.430_431insCTG
NM_001353200.1:c.430_431insCTG	NP_001340129.1:n.430_431insCTG
NR_148391.1:n.2482_2483insCTG
NR_148392.1:n.2700_2701insCTG
NR_148393.1:n.2797_2798insCTG
NR_148394.1:n.2551_2552insCTG
NR_148395.1:n.2949_2950insCTG
NR_148396.1:n.2583_2584insCTG
NR_148397.1:n.2708_2709insCTG
NR_148398.1:n.2663_2664insCTG
NR_148399.1:n.3013_3014insCTG
NR_148400.1:n.2788_2789insCTG
XM_005272162.3:c.430_431insCTG	XP_005272219.1:n.430_431insCTG
XM_006716932.2:c.430_431insCTG	XP_006716995.1:n.430_431insCTG
XM_011518140.2:c.430_431insCTG	XP_011516442.1:n.430_431insCTG
XM_011518141.2:c.430_431insCTG	XP_011516443.1:n.430_431insCTG
XM_011518142.2:c.430_431insCTG	XP_011516444.1:n.430_431insCTG
XM_011518143.2:c.430_431insCTG	XP_011516445.1:n.430_431insCTG
XM_011518145.2:c.430_431insCTG	XP_011516447.1:n.430_431insCTG
XM_017014205.2:c.430_431insCTG	XP_016869694.1:n.430_431insCTG
XM_024447380.1:c.430_431insCTG	XP_024303148.1:n.430_431insCTG
XM_024447381.1:c.430_431insCTG	XP_024303149.1:n.430_431insCTG
XM_024447382.1:c.430_431insCTG	XP_024303150.1:n.430_431insCTG
XR_001746160.2:n.2602_2603insCTG
XR_001746162.2:n.2983_2984insCTG
XR_001746164.1:n.2700_2701insCTG
XR_001746166.2:n.2819_2820insCTG
NM_001077365.2:c.430_431insCTG MANE Select	NP_001070833.1:n.430_431insCTG
NM_001077366.2:c.430_431insCTG	NP_001070834.1:n.430_431insCTG
NM_001136113.2:c.430_431insCTG	NP_001129585.1:n.430_431insCTG
NM_001136114.2:c.430_431insCTG	NP_001129586.1:n.430_431insCTG
NM_001353193.2:c.430_431insCTG	NP_001340122.2:n.430_431insCTG
NM_001353194.2:c.430_431insCTG	NP_001340123.1:n.430_431insCTG
NM_001353195.2:c.430_431insCTG	NP_001340124.1:n.430_431insCTG
NM_001353196.2:c.430_431insCTG	NP_001340125.1:n.430_431insCTG
NM_001353197.2:c.430_431insCTG	NP_001340126.2:n.430_431insCTG
NM_001353198.2:c.430_431insCTG	NP_001340127.2:n.430_431insCTG
NM_001353199.2:c.430_431insCTG	NP_001340128.2:n.430_431insCTG
NM_001353200.2:c.430_431insCTG	NP_001340129.1:n.430_431insCTG
NM_001374689.1:c.430_431insCTG	NP_001361618.1:n.430_431insCTG
NM_001374690.1:c.430_431insCTG	NP_001361619.1:n.430_431insCTG
NM_001374691.1:c.430_431insCTG	NP_001361620.1:n.430_431insCTG
NM_001374692.1:c.430_431insCTG	NP_001361621.1:n.430_431insCTG
NM_001374693.1:c.430_431insCTG	NP_001361622.1:n.430_431insCTG
NM_001374695.1:c.430_431insCTG	NP_001361624.1:n.430_431insCTG
NM_007171.4:c.430_431insCTG	NP_009102.4:n.430_431insCTG
NR_148391.2:n.2466_2467insCTG
NR_148392.2:n.2684_2685insCTG
NR_148393.2:n.2781_2782insCTG
NR_148394.2:n.2535_2536insCTG
NR_148395.2:n.2933_2934insCTG
NR_148396.2:n.2567_2568insCTG
NR_148397.2:n.2692_2693insCTG
NR_148398.2:n.2647_2648insCTG
NR_148399.2:n.2997_2998insCTG
NR_148400.2:n.2772_2773insCTG

Linked Data

Genomic Alleles

Transcript Alleles