Canonical Allele Identifier: CA918566902

Gene: POMT1

Linked Data

• dbSNP Id: rs1588518953
• gnomAD v4: 9-131523465-TGGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523467_131523469del , CM000671.2:g.131523467_131523469del	GRCh38
NC_000009.11:g.134398854_134398856del , CM000671.1:g.134398854_134398856del	GRCh37
NC_000009.10:g.133388675_133388677del	NCBI36
NG_008896.1:g.25566_25568del
NG_008896.2:g.25566_25568del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.*361_*363del	ENSP00000343034.7:n.*361_*363del
ENST00000404875.7:n.3079_3081del
ENST00000677295.2:c.*2883_*2885del	ENSP00000504346.2:n.*2883_*2885del
ENST00000678264.2:c.*2722_*2724del	ENSP00000503157.2:n.*2722_*2724del
ENST00000682070.1:n.2849_2851del
ENST00000682639.1:c.244_246del
ENST00000682813.1:n.2936_2938del
ENST00000683231.1:c.389_391del
ENST00000683392.1:n.5131_5133del
ENST00000683900.1:n.4439_4441del
ENST00000684062.1:n.3205_3207del
ENST00000684399.1:c.354_356del
ENST00000684579.1:n.4385_4387del
ENST00000341012.12:c.*361_*363del	ENSP00000343034.7:n.*361_*363del
ENST00000372220.5:c.*361_*363del	ENSP00000361294.5:n.*361_*363del
ENST00000372228.9:c.*361_*363del	ENSP00000361302.3:n.*361_*363del
ENST00000402686.8:c.*361_*363del MANE Select	ENSP00000385797.4:n.*361_*363del
ENST00000676640.1:c.*361_*363del	ENSP00000503281.1:n.*361_*363del
ENST00000676803.1:c.*361_*363del	ENSP00000503093.1:n.*361_*363del
ENST00000676835.1:c.*1754_*1756del	ENSP00000502911.1:n.*1754_*1756del
ENST00000677099.1:c.*2249_*2251del	ENSP00000504553.1:n.*2249_*2251del
ENST00000677295.1:c.*1761_*1763del	ENSP00000504346.1:n.*1761_*1763del
ENST00000677444.1:c.2484_2486del
ENST00000677626.1:c.*361_*363del	ENSP00000503552.1:n.*361_*363del
ENST00000677853.1:c.*1547_*1549del	ENSP00000503488.1:n.*1547_*1549del
ENST00000678366.1:c.*2788_*2790del	ENSP00000504353.1:n.*2788_*2790del
ENST00000678546.1:c.*2484_*2486del	ENSP00000503062.1:n.*2484_*2486del
ENST00000678548.1:c.*2678_*2680del	ENSP00000503934.1:n.*2678_*2680del
ENST00000678626.1:n.2375_2377del
ENST00000678739.1:c.*2705_*2707del	ENSP00000503806.1:n.*2705_*2707del
ENST00000678833.1:c.*2291_*2293del	ENSP00000503893.1:n.*2291_*2293del
ENST00000679023.1:c.*185_*187del	ENSP00000503718.1:n.*185_*187del
ENST00000679076.1:c.2158_2160del
ENST00000679111.1:c.*1295_*1297del	ENSP00000504257.1:n.*1295_*1297del
ENST00000341012.11:c.*361_*363del	ENSP00000343034.7:n.*361_*363del
ENST00000372220.4:c.1402_1404del	ENSP00000361294.4:n.1402_1404del
ENST00000372228.7:c.*361_*363del	ENSP00000361302.3:n.*361_*363del
ENST00000402686.7:c.*361_*363del	ENSP00000385797.3:n.*361_*363del
ENST00000404875.6:c.*361_*363del	ENSP00000384531.2:n.*361_*363del
ENST00000423007.5:c.*361_*363del	ENSP00000404119.1:n.*361_*363del
ENST00000485278.5:n.3089_3091del
NM_001077365.1:c.*361_*363del	NP_001070833.1:n.*361_*363del
NM_001077366.1:c.*361_*363del	NP_001070834.1:n.*361_*363del
NM_001136113.1:c.*361_*363del	NP_001129585.1:n.*361_*363del
NM_001136114.1:c.*361_*363del	NP_001129586.1:n.*361_*363del
NM_007171.3:c.*361_*363del	NP_009102.3:n.*361_*363del
XM_005272156.1:c.*361_*363del	XP_005272213.1:n.*361_*363del
XM_005272158.1:c.*361_*363del	XP_005272215.1:n.*361_*363del
XM_005272159.1:c.*361_*363del	XP_005272216.1:n.*361_*363del
XM_005272162.1:c.*361_*363del	XP_005272219.1:n.*361_*363del
XM_006716932.1:c.*361_*363del	XP_006716995.1:n.*361_*363del
XM_011518140.1:c.*361_*363del	XP_011516442.1:n.*361_*363del
XM_011518141.1:c.*361_*363del	XP_011516443.1:n.*361_*363del
XM_011518142.1:c.*361_*363del	XP_011516444.1:n.*361_*363del
XM_011518143.1:c.*361_*363del	XP_011516445.1:n.*361_*363del
XM_011518145.1:c.*361_*363del	XP_011516447.1:n.*361_*363del
XM_011518147.1:c.*361_*363del	XP_011516449.1:n.*361_*363del
XR_929703.1:n.2605_2607del
NM_001353193.1:c.*361_*363del	NP_001340122.1:n.*361_*363del
NM_001353194.1:c.*361_*363del	NP_001340123.1:n.*361_*363del
NM_001353195.1:c.*361_*363del	NP_001340124.1:n.*361_*363del
NM_001353196.1:c.*361_*363del	NP_001340125.1:n.*361_*363del
NM_001353197.1:c.*361_*363del	NP_001340126.1:n.*361_*363del
NM_001353198.1:c.*361_*363del	NP_001340127.1:n.*361_*363del
NM_001353199.1:c.*361_*363del	NP_001340128.1:n.*361_*363del
NM_001353200.1:c.*361_*363del	NP_001340129.1:n.*361_*363del
NR_148391.1:n.2413_2415del
NR_148392.1:n.2631_2633del
NR_148393.1:n.2728_2730del
NR_148394.1:n.2482_2484del
NR_148395.1:n.2880_2882del
NR_148396.1:n.2514_2516del
NR_148397.1:n.2639_2641del
NR_148398.1:n.2594_2596del
NR_148399.1:n.2944_2946del
NR_148400.1:n.2719_2721del
XM_005272162.3:c.*361_*363del	XP_005272219.1:n.*361_*363del
XM_006716932.2:c.*361_*363del	XP_006716995.1:n.*361_*363del
XM_011518140.2:c.*361_*363del	XP_011516442.1:n.*361_*363del
XM_011518141.2:c.*361_*363del	XP_011516443.1:n.*361_*363del
XM_011518142.2:c.*361_*363del	XP_011516444.1:n.*361_*363del
XM_011518143.2:c.*361_*363del	XP_011516445.1:n.*361_*363del
XM_011518145.2:c.*361_*363del	XP_011516447.1:n.*361_*363del
XM_017014205.2:c.*361_*363del	XP_016869694.1:n.*361_*363del
XM_024447380.1:c.*361_*363del	XP_024303148.1:n.*361_*363del
XM_024447381.1:c.*361_*363del	XP_024303149.1:n.*361_*363del
XM_024447382.1:c.*361_*363del	XP_024303150.1:n.*361_*363del
XR_001746160.2:n.2533_2535del
XR_001746162.2:n.2914_2916del
XR_001746164.1:n.2631_2633del
XR_001746166.2:n.2750_2752del
NM_001077365.2:c.*361_*363del MANE Select	NP_001070833.1:n.*361_*363del
NM_001077366.2:c.*361_*363del	NP_001070834.1:n.*361_*363del
NM_001136113.2:c.*361_*363del	NP_001129585.1:n.*361_*363del
NM_001136114.2:c.*361_*363del	NP_001129586.1:n.*361_*363del
NM_001353193.2:c.*361_*363del	NP_001340122.2:n.*361_*363del
NM_001353194.2:c.*361_*363del	NP_001340123.1:n.*361_*363del
NM_001353195.2:c.*361_*363del	NP_001340124.1:n.*361_*363del
NM_001353196.2:c.*361_*363del	NP_001340125.1:n.*361_*363del
NM_001353197.2:c.*361_*363del	NP_001340126.2:n.*361_*363del
NM_001353198.2:c.*361_*363del	NP_001340127.2:n.*361_*363del
NM_001353199.2:c.*361_*363del	NP_001340128.2:n.*361_*363del
NM_001353200.2:c.*361_*363del	NP_001340129.1:n.*361_*363del
NM_001374689.1:c.*361_*363del	NP_001361618.1:n.*361_*363del
NM_001374690.1:c.*361_*363del	NP_001361619.1:n.*361_*363del
NM_001374691.1:c.*361_*363del	NP_001361620.1:n.*361_*363del
NM_001374692.1:c.*361_*363del	NP_001361621.1:n.*361_*363del
NM_001374693.1:c.*361_*363del	NP_001361622.1:n.*361_*363del
NM_001374695.1:c.*361_*363del	NP_001361624.1:n.*361_*363del
NM_007171.4:c.*361_*363del	NP_009102.4:n.*361_*363del
NR_148391.2:n.2397_2399del
NR_148392.2:n.2615_2617del
NR_148393.2:n.2712_2714del
NR_148394.2:n.2466_2468del
NR_148395.2:n.2864_2866del
NR_148396.2:n.2498_2500del
NR_148397.2:n.2623_2625del
NR_148398.2:n.2578_2580del
NR_148399.2:n.2928_2930del
NR_148400.2:n.2703_2705del