Canonical Allele Identifier: CA1881761103

Gene: POMT1

Linked Data

• dbSNP Id: rs1950336701
• gnomAD v4: 9-131523350-CAGGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523353_131523356del , CM000671.2:g.131523353_131523356del	GRCh38
NC_000009.11:g.134398740_134398743del , CM000671.1:g.134398740_134398743del	GRCh37
NC_000009.10:g.133388561_133388564del	NCBI36
NG_008896.1:g.25452_25455del
NG_008896.2:g.25452_25455del

Transcript Alleles

HGVS	Amino-acid change
ENST00000341012.13:c.*247_*250del	ENSP00000343034.7:n.*247_*250del
ENST00000404875.7:n.2965_2968del
ENST00000677295.2:c.*2769_*2772del	ENSP00000504346.2:n.*2769_*2772del
ENST00000678264.2:c.*2608_*2611del	ENSP00000503157.2:n.*2608_*2611del
ENST00000682070.1:n.2735_2738del
ENST00000682639.1:c.240-110_240-107del
ENST00000682813.1:n.2822_2825del
ENST00000683231.1:c.275_278del
ENST00000683392.1:n.5017_5020del
ENST00000683900.1:n.4325_4328del
ENST00000684062.1:n.3091_3094del
ENST00000684399.1:c.240_243del
ENST00000684579.1:n.4271_4274del
ENST00000341012.12:c.*247_*250del	ENSP00000343034.7:n.*247_*250del
ENST00000372220.5:c.*247_*250del	ENSP00000361294.5:n.*247_*250del
ENST00000372228.9:c.*247_*250del	ENSP00000361302.3:n.*247_*250del
ENST00000402686.8:c.*247_*250del MANE Select	ENSP00000385797.4:n.*247_*250del
ENST00000676640.1:c.*247_*250del	ENSP00000503281.1:n.*247_*250del
ENST00000676803.1:c.*247_*250del	ENSP00000503093.1:n.*247_*250del
ENST00000676835.1:c.*1640_*1643del	ENSP00000502911.1:n.*1640_*1643del
ENST00000677029.1:c.*247_*250del	ENSP00000502936.1:n.*247_*250del
ENST00000677099.1:c.*2135_*2138del	ENSP00000504553.1:n.*2135_*2138del
ENST00000677216.1:c.*247_*250del	ENSP00000503772.1:n.*247_*250del
ENST00000677295.1:c.*1647_*1650del	ENSP00000504346.1:n.*1647_*1650del
ENST00000677444.1:c.2370_2373del
ENST00000677626.1:c.*247_*250del	ENSP00000503552.1:n.*247_*250del
ENST00000677853.1:c.*1433_*1436del	ENSP00000503488.1:n.*1433_*1436del
ENST00000678303.1:c.*247_*250del	ENSP00000503696.1:n.*247_*250del
ENST00000678366.1:c.*2674_*2677del	ENSP00000504353.1:n.*2674_*2677del
ENST00000678546.1:c.*2370_*2373del	ENSP00000503062.1:n.*2370_*2373del
ENST00000678548.1:c.*2564_*2567del	ENSP00000503934.1:n.*2564_*2567del
ENST00000678626.1:n.2261_2264del
ENST00000678739.1:c.*2591_*2594del	ENSP00000503806.1:n.*2591_*2594del
ENST00000678833.1:c.*2177_*2180del	ENSP00000503893.1:n.*2177_*2180del
ENST00000679023.1:c.*71_*74del	ENSP00000503718.1:n.*71_*74del
ENST00000679076.1:c.2044_2047del
ENST00000679111.1:c.*1181_*1184del	ENSP00000504257.1:n.*1181_*1184del
ENST00000341012.11:c.*247_*250del	ENSP00000343034.7:n.*247_*250del
ENST00000372220.4:c.1288_1291del	ENSP00000361294.4:n.1288_1291del
ENST00000372228.7:c.*247_*250del	ENSP00000361302.3:n.*247_*250del
ENST00000402686.7:c.*247_*250del	ENSP00000385797.3:n.*247_*250del
ENST00000404875.6:c.*247_*250del	ENSP00000384531.2:n.*247_*250del
ENST00000423007.5:c.*247_*250del	ENSP00000404119.1:n.*247_*250del
ENST00000485278.5:n.2975_2978del
NM_001077365.1:c.*247_*250del	NP_001070833.1:n.*247_*250del
NM_001077366.1:c.*247_*250del	NP_001070834.1:n.*247_*250del
NM_001136113.1:c.*247_*250del	NP_001129585.1:n.*247_*250del
NM_001136114.1:c.*247_*250del	NP_001129586.1:n.*247_*250del
NM_007171.3:c.*247_*250del	NP_009102.3:n.*247_*250del
XM_005272156.1:c.*247_*250del	XP_005272213.1:n.*247_*250del
XM_005272158.1:c.*247_*250del	XP_005272215.1:n.*247_*250del
XM_005272159.1:c.*247_*250del	XP_005272216.1:n.*247_*250del
XM_005272162.1:c.*247_*250del	XP_005272219.1:n.*247_*250del
XM_006716932.1:c.*247_*250del	XP_006716995.1:n.*247_*250del
XM_011518140.1:c.*247_*250del	XP_011516442.1:n.*247_*250del
XM_011518141.1:c.*247_*250del	XP_011516443.1:n.*247_*250del
XM_011518142.1:c.*247_*250del	XP_011516444.1:n.*247_*250del
XM_011518143.1:c.*247_*250del	XP_011516445.1:n.*247_*250del
XM_011518145.1:c.*247_*250del	XP_011516447.1:n.*247_*250del
XM_011518147.1:c.*247_*250del	XP_011516449.1:n.*247_*250del
XR_929703.1:n.2491_2494del
NM_001353193.1:c.*247_*250del	NP_001340122.1:n.*247_*250del
NM_001353194.1:c.*247_*250del	NP_001340123.1:n.*247_*250del
NM_001353195.1:c.*247_*250del	NP_001340124.1:n.*247_*250del
NM_001353196.1:c.*247_*250del	NP_001340125.1:n.*247_*250del
NM_001353197.1:c.*247_*250del	NP_001340126.1:n.*247_*250del
NM_001353198.1:c.*247_*250del	NP_001340127.1:n.*247_*250del
NM_001353199.1:c.*247_*250del	NP_001340128.1:n.*247_*250del
NM_001353200.1:c.*247_*250del	NP_001340129.1:n.*247_*250del
NR_148391.1:n.2299_2302del
NR_148392.1:n.2517_2520del
NR_148393.1:n.2614_2617del
NR_148394.1:n.2368_2371del
NR_148395.1:n.2766_2769del
NR_148396.1:n.2400_2403del
NR_148397.1:n.2525_2528del
NR_148398.1:n.2480_2483del
NR_148399.1:n.2830_2833del
NR_148400.1:n.2605_2608del
XM_005272162.3:c.*247_*250del	XP_005272219.1:n.*247_*250del
XM_006716932.2:c.*247_*250del	XP_006716995.1:n.*247_*250del
XM_011518140.2:c.*247_*250del	XP_011516442.1:n.*247_*250del
XM_011518141.2:c.*247_*250del	XP_011516443.1:n.*247_*250del
XM_011518142.2:c.*247_*250del	XP_011516444.1:n.*247_*250del
XM_011518143.2:c.*247_*250del	XP_011516445.1:n.*247_*250del
XM_011518145.2:c.*247_*250del	XP_011516447.1:n.*247_*250del
XM_017014205.2:c.*247_*250del	XP_016869694.1:n.*247_*250del
XM_024447380.1:c.*247_*250del	XP_024303148.1:n.*247_*250del
XM_024447381.1:c.*247_*250del	XP_024303149.1:n.*247_*250del
XM_024447382.1:c.*247_*250del	XP_024303150.1:n.*247_*250del
XR_001746160.2:n.2419_2422del
XR_001746162.2:n.2800_2803del
XR_001746164.1:n.2517_2520del
XR_001746166.2:n.2636_2639del
NM_001077365.2:c.*247_*250del MANE Select	NP_001070833.1:n.*247_*250del
NM_001077366.2:c.*247_*250del	NP_001070834.1:n.*247_*250del
NM_001136113.2:c.*247_*250del	NP_001129585.1:n.*247_*250del
NM_001136114.2:c.*247_*250del	NP_001129586.1:n.*247_*250del
NM_001353193.2:c.*247_*250del	NP_001340122.2:n.*247_*250del
NM_001353194.2:c.*247_*250del	NP_001340123.1:n.*247_*250del
NM_001353195.2:c.*247_*250del	NP_001340124.1:n.*247_*250del
NM_001353196.2:c.*247_*250del	NP_001340125.1:n.*247_*250del
NM_001353197.2:c.*247_*250del	NP_001340126.2:n.*247_*250del
NM_001353198.2:c.*247_*250del	NP_001340127.2:n.*247_*250del
NM_001353199.2:c.*247_*250del	NP_001340128.2:n.*247_*250del
NM_001353200.2:c.*247_*250del	NP_001340129.1:n.*247_*250del
NM_001374689.1:c.*247_*250del	NP_001361618.1:n.*247_*250del
NM_001374690.1:c.*247_*250del	NP_001361619.1:n.*247_*250del
NM_001374691.1:c.*247_*250del	NP_001361620.1:n.*247_*250del
NM_001374692.1:c.*247_*250del	NP_001361621.1:n.*247_*250del
NM_001374693.1:c.*247_*250del	NP_001361622.1:n.*247_*250del
NM_001374695.1:c.*247_*250del	NP_001361624.1:n.*247_*250del
NM_007171.4:c.*247_*250del	NP_009102.4:n.*247_*250del
NR_148391.2:n.2283_2286del
NR_148392.2:n.2501_2504del
NR_148393.2:n.2598_2601del
NR_148394.2:n.2352_2355del
NR_148395.2:n.2750_2753del
NR_148396.2:n.2384_2387del
NR_148397.2:n.2509_2512del
NR_148398.2:n.2464_2467del
NR_148399.2:n.2814_2817del
NR_148400.2:n.2589_2592del