Canonical Allele Identifier: CA2692223106

Gene: POMT1

Linked Data

• gnomAD v4: 9-131523410-G-GCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523411_131523413dup , CM000671.2:g.131523411_131523413dup	GRCh38
NC_000009.11:g.134398798_134398800dup , CM000671.1:g.134398798_134398800dup	GRCh37
NC_000009.10:g.133388619_133388621dup	NCBI36
NG_008896.1:g.25510_25512dup
NG_008896.2:g.25510_25512dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.*305_*307dup	ENSP00000343034.7:n.*305_*307dup
ENST00000404875.7:n.3023_3025dup
ENST00000677295.2:c.*2827_*2829dup	ENSP00000504346.2:n.*2827_*2829dup
ENST00000678264.2:c.*2666_*2668dup	ENSP00000503157.2:n.*2666_*2668dup
ENST00000682070.1:n.2793_2795dup
ENST00000682639.1:c.240-52_240-50dup
ENST00000682813.1:n.2880_2882dup
ENST00000683231.1:c.333_335dup
ENST00000683392.1:n.5075_5077dup
ENST00000683900.1:n.4383_4385dup
ENST00000684062.1:n.3149_3151dup
ENST00000684399.1:c.298_300dup
ENST00000684579.1:n.4329_4331dup
ENST00000341012.12:c.*305_*307dup	ENSP00000343034.7:n.*305_*307dup
ENST00000372220.5:c.*305_*307dup	ENSP00000361294.5:n.*305_*307dup
ENST00000372228.9:c.*305_*307dup	ENSP00000361302.3:n.*305_*307dup
ENST00000402686.8:c.*305_*307dup MANE Select	ENSP00000385797.4:n.*305_*307dup
ENST00000676640.1:c.*305_*307dup	ENSP00000503281.1:n.*305_*307dup
ENST00000676803.1:c.*305_*307dup	ENSP00000503093.1:n.*305_*307dup
ENST00000676835.1:c.*1698_*1700dup	ENSP00000502911.1:n.*1698_*1700dup
ENST00000677099.1:c.*2193_*2195dup	ENSP00000504553.1:n.*2193_*2195dup
ENST00000677216.1:c.*305_*307dup	ENSP00000503772.1:n.*305_*307dup
ENST00000677295.1:c.*1705_*1707dup	ENSP00000504346.1:n.*1705_*1707dup
ENST00000677444.1:c.2428_2430dup
ENST00000677626.1:c.*305_*307dup	ENSP00000503552.1:n.*305_*307dup
ENST00000677853.1:c.*1491_*1493dup	ENSP00000503488.1:n.*1491_*1493dup
ENST00000678303.1:c.*305_*307dup	ENSP00000503696.1:n.*305_*307dup
ENST00000678366.1:c.*2732_*2734dup	ENSP00000504353.1:n.*2732_*2734dup
ENST00000678546.1:c.*2428_*2430dup	ENSP00000503062.1:n.*2428_*2430dup
ENST00000678548.1:c.*2622_*2624dup	ENSP00000503934.1:n.*2622_*2624dup
ENST00000678626.1:n.2319_2321dup
ENST00000678739.1:c.*2649_*2651dup	ENSP00000503806.1:n.*2649_*2651dup
ENST00000678833.1:c.*2235_*2237dup	ENSP00000503893.1:n.*2235_*2237dup
ENST00000679023.1:c.*129_*131dup	ENSP00000503718.1:n.*129_*131dup
ENST00000679076.1:c.2102_2104dup
ENST00000679111.1:c.*1239_*1241dup	ENSP00000504257.1:n.*1239_*1241dup
ENST00000341012.11:c.*305_*307dup	ENSP00000343034.7:n.*305_*307dup
ENST00000372220.4:c.1346_1348dup	ENSP00000361294.4:n.1346_1348dup
ENST00000372228.7:c.*305_*307dup	ENSP00000361302.3:n.*305_*307dup
ENST00000402686.7:c.*305_*307dup	ENSP00000385797.3:n.*305_*307dup
ENST00000404875.6:c.*305_*307dup	ENSP00000384531.2:n.*305_*307dup
ENST00000423007.5:c.*305_*307dup	ENSP00000404119.1:n.*305_*307dup
ENST00000485278.5:n.3033_3035dup
NM_001077365.1:c.*305_*307dup	NP_001070833.1:n.*305_*307dup
NM_001077366.1:c.*305_*307dup	NP_001070834.1:n.*305_*307dup
NM_001136113.1:c.*305_*307dup	NP_001129585.1:n.*305_*307dup
NM_001136114.1:c.*305_*307dup	NP_001129586.1:n.*305_*307dup
NM_007171.3:c.*305_*307dup	NP_009102.3:n.*305_*307dup
XM_005272156.1:c.*305_*307dup	XP_005272213.1:n.*305_*307dup
XM_005272158.1:c.*305_*307dup	XP_005272215.1:n.*305_*307dup
XM_005272159.1:c.*305_*307dup	XP_005272216.1:n.*305_*307dup
XM_005272162.1:c.*305_*307dup	XP_005272219.1:n.*305_*307dup
XM_006716932.1:c.*305_*307dup	XP_006716995.1:n.*305_*307dup
XM_011518140.1:c.*305_*307dup	XP_011516442.1:n.*305_*307dup
XM_011518141.1:c.*305_*307dup	XP_011516443.1:n.*305_*307dup
XM_011518142.1:c.*305_*307dup	XP_011516444.1:n.*305_*307dup
XM_011518143.1:c.*305_*307dup	XP_011516445.1:n.*305_*307dup
XM_011518145.1:c.*305_*307dup	XP_011516447.1:n.*305_*307dup
XM_011518147.1:c.*305_*307dup	XP_011516449.1:n.*305_*307dup
XR_929703.1:n.2549_2551dup
NM_001353193.1:c.*305_*307dup	NP_001340122.1:n.*305_*307dup
NM_001353194.1:c.*305_*307dup	NP_001340123.1:n.*305_*307dup
NM_001353195.1:c.*305_*307dup	NP_001340124.1:n.*305_*307dup
NM_001353196.1:c.*305_*307dup	NP_001340125.1:n.*305_*307dup
NM_001353197.1:c.*305_*307dup	NP_001340126.1:n.*305_*307dup
NM_001353198.1:c.*305_*307dup	NP_001340127.1:n.*305_*307dup
NM_001353199.1:c.*305_*307dup	NP_001340128.1:n.*305_*307dup
NM_001353200.1:c.*305_*307dup	NP_001340129.1:n.*305_*307dup
NR_148391.1:n.2357_2359dup
NR_148392.1:n.2575_2577dup
NR_148393.1:n.2672_2674dup
NR_148394.1:n.2426_2428dup
NR_148395.1:n.2824_2826dup
NR_148396.1:n.2458_2460dup
NR_148397.1:n.2583_2585dup
NR_148398.1:n.2538_2540dup
NR_148399.1:n.2888_2890dup
NR_148400.1:n.2663_2665dup
XM_005272162.3:c.*305_*307dup	XP_005272219.1:n.*305_*307dup
XM_006716932.2:c.*305_*307dup	XP_006716995.1:n.*305_*307dup
XM_011518140.2:c.*305_*307dup	XP_011516442.1:n.*305_*307dup
XM_011518141.2:c.*305_*307dup	XP_011516443.1:n.*305_*307dup
XM_011518142.2:c.*305_*307dup	XP_011516444.1:n.*305_*307dup
XM_011518143.2:c.*305_*307dup	XP_011516445.1:n.*305_*307dup
XM_011518145.2:c.*305_*307dup	XP_011516447.1:n.*305_*307dup
XM_017014205.2:c.*305_*307dup	XP_016869694.1:n.*305_*307dup
XM_024447380.1:c.*305_*307dup	XP_024303148.1:n.*305_*307dup
XM_024447381.1:c.*305_*307dup	XP_024303149.1:n.*305_*307dup
XM_024447382.1:c.*305_*307dup	XP_024303150.1:n.*305_*307dup
XR_001746160.2:n.2477_2479dup
XR_001746162.2:n.2858_2860dup
XR_001746164.1:n.2575_2577dup
XR_001746166.2:n.2694_2696dup
NM_001077365.2:c.*305_*307dup MANE Select	NP_001070833.1:n.*305_*307dup
NM_001077366.2:c.*305_*307dup	NP_001070834.1:n.*305_*307dup
NM_001136113.2:c.*305_*307dup	NP_001129585.1:n.*305_*307dup
NM_001136114.2:c.*305_*307dup	NP_001129586.1:n.*305_*307dup
NM_001353193.2:c.*305_*307dup	NP_001340122.2:n.*305_*307dup
NM_001353194.2:c.*305_*307dup	NP_001340123.1:n.*305_*307dup
NM_001353195.2:c.*305_*307dup	NP_001340124.1:n.*305_*307dup
NM_001353196.2:c.*305_*307dup	NP_001340125.1:n.*305_*307dup
NM_001353197.2:c.*305_*307dup	NP_001340126.2:n.*305_*307dup
NM_001353198.2:c.*305_*307dup	NP_001340127.2:n.*305_*307dup
NM_001353199.2:c.*305_*307dup	NP_001340128.2:n.*305_*307dup
NM_001353200.2:c.*305_*307dup	NP_001340129.1:n.*305_*307dup
NM_001374689.1:c.*305_*307dup	NP_001361618.1:n.*305_*307dup
NM_001374690.1:c.*305_*307dup	NP_001361619.1:n.*305_*307dup
NM_001374691.1:c.*305_*307dup	NP_001361620.1:n.*305_*307dup
NM_001374692.1:c.*305_*307dup	NP_001361621.1:n.*305_*307dup
NM_001374693.1:c.*305_*307dup	NP_001361622.1:n.*305_*307dup
NM_001374695.1:c.*305_*307dup	NP_001361624.1:n.*305_*307dup
NM_007171.4:c.*305_*307dup	NP_009102.4:n.*305_*307dup
NR_148391.2:n.2341_2343dup
NR_148392.2:n.2559_2561dup
NR_148393.2:n.2656_2658dup
NR_148394.2:n.2410_2412dup
NR_148395.2:n.2808_2810dup
NR_148396.2:n.2442_2444dup
NR_148397.2:n.2567_2569dup
NR_148398.2:n.2522_2524dup
NR_148399.2:n.2872_2874dup
NR_148400.2:n.2647_2649dup