Canonical Allele Identifier: CA860561291

Gene: POMT1

Linked Data

• dbSNP Id: rs1327343370
• gnomAD v3: 9-131523447-TTGC-T
• gnomAD v4: 9-131523447-TTGC-T
• MyVariant Identifiers: chr9:g.134398835_134398837del (hg19) ; chr9:g.131523448_131523450del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523449_131523451del , CM000671.2:g.131523449_131523451del	GRCh38
NC_000009.11:g.134398836_134398838del , CM000671.1:g.134398836_134398838del	GRCh37
NC_000009.10:g.133388657_133388659del	NCBI36
NG_008896.1:g.25548_25550del
NG_008896.2:g.25548_25550del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.*343_*345del	ENSP00000343034.7:n.*343_*345del
ENST00000404875.7:n.3061_3063del
ENST00000677295.2:c.*2865_*2867del	ENSP00000504346.2:n.*2865_*2867del
ENST00000678264.2:c.*2704_*2706del	ENSP00000503157.2:n.*2704_*2706del
ENST00000682070.1:n.2831_2833del
ENST00000682639.1:c.240-14_240-12del
ENST00000682813.1:n.2918_2920del
ENST00000683231.1:c.371_373del
ENST00000683392.1:n.5113_5115del
ENST00000683900.1:n.4421_4423del
ENST00000684062.1:n.3187_3189del
ENST00000684399.1:c.336_338del
ENST00000684579.1:n.4367_4369del
ENST00000341012.12:c.*343_*345del	ENSP00000343034.7:n.*343_*345del
ENST00000372220.5:c.*343_*345del	ENSP00000361294.5:n.*343_*345del
ENST00000372228.9:c.*343_*345del	ENSP00000361302.3:n.*343_*345del
ENST00000402686.8:c.*343_*345del MANE Select	ENSP00000385797.4:n.*343_*345del
ENST00000676640.1:c.*343_*345del	ENSP00000503281.1:n.*343_*345del
ENST00000676803.1:c.*343_*345del	ENSP00000503093.1:n.*343_*345del
ENST00000676835.1:c.*1736_*1738del	ENSP00000502911.1:n.*1736_*1738del
ENST00000677099.1:c.*2231_*2233del	ENSP00000504553.1:n.*2231_*2233del
ENST00000677295.1:c.*1743_*1745del	ENSP00000504346.1:n.*1743_*1745del
ENST00000677444.1:c.2466_2468del
ENST00000677626.1:c.*343_*345del	ENSP00000503552.1:n.*343_*345del
ENST00000677853.1:c.*1529_*1531del	ENSP00000503488.1:n.*1529_*1531del
ENST00000678366.1:c.*2770_*2772del	ENSP00000504353.1:n.*2770_*2772del
ENST00000678546.1:c.*2466_*2468del	ENSP00000503062.1:n.*2466_*2468del
ENST00000678548.1:c.*2660_*2662del	ENSP00000503934.1:n.*2660_*2662del
ENST00000678626.1:n.2357_2359del
ENST00000678739.1:c.*2687_*2689del	ENSP00000503806.1:n.*2687_*2689del
ENST00000678833.1:c.*2273_*2275del	ENSP00000503893.1:n.*2273_*2275del
ENST00000679023.1:c.*167_*169del	ENSP00000503718.1:n.*167_*169del
ENST00000679076.1:c.2140_2142del
ENST00000679111.1:c.*1277_*1279del	ENSP00000504257.1:n.*1277_*1279del
ENST00000341012.11:c.*343_*345del	ENSP00000343034.7:n.*343_*345del
ENST00000372220.4:c.1384_1386del	ENSP00000361294.4:n.1384_1386del
ENST00000372228.7:c.*343_*345del	ENSP00000361302.3:n.*343_*345del
ENST00000402686.7:c.*343_*345del	ENSP00000385797.3:n.*343_*345del
ENST00000404875.6:c.*343_*345del	ENSP00000384531.2:n.*343_*345del
ENST00000423007.5:c.*343_*345del	ENSP00000404119.1:n.*343_*345del
ENST00000485278.5:n.3071_3073del
NM_001077365.1:c.*343_*345del	NP_001070833.1:n.*343_*345del
NM_001077366.1:c.*343_*345del	NP_001070834.1:n.*343_*345del
NM_001136113.1:c.*343_*345del	NP_001129585.1:n.*343_*345del
NM_001136114.1:c.*343_*345del	NP_001129586.1:n.*343_*345del
NM_007171.3:c.*343_*345del	NP_009102.3:n.*343_*345del
XM_005272156.1:c.*343_*345del	XP_005272213.1:n.*343_*345del
XM_005272158.1:c.*343_*345del	XP_005272215.1:n.*343_*345del
XM_005272159.1:c.*343_*345del	XP_005272216.1:n.*343_*345del
XM_005272162.1:c.*343_*345del	XP_005272219.1:n.*343_*345del
XM_006716932.1:c.*343_*345del	XP_006716995.1:n.*343_*345del
XM_011518140.1:c.*343_*345del	XP_011516442.1:n.*343_*345del
XM_011518141.1:c.*343_*345del	XP_011516443.1:n.*343_*345del
XM_011518142.1:c.*343_*345del	XP_011516444.1:n.*343_*345del
XM_011518143.1:c.*343_*345del	XP_011516445.1:n.*343_*345del
XM_011518145.1:c.*343_*345del	XP_011516447.1:n.*343_*345del
XM_011518147.1:c.*343_*345del	XP_011516449.1:n.*343_*345del
XR_929703.1:n.2587_2589del
NM_001353193.1:c.*343_*345del	NP_001340122.1:n.*343_*345del
NM_001353194.1:c.*343_*345del	NP_001340123.1:n.*343_*345del
NM_001353195.1:c.*343_*345del	NP_001340124.1:n.*343_*345del
NM_001353196.1:c.*343_*345del	NP_001340125.1:n.*343_*345del
NM_001353197.1:c.*343_*345del	NP_001340126.1:n.*343_*345del
NM_001353198.1:c.*343_*345del	NP_001340127.1:n.*343_*345del
NM_001353199.1:c.*343_*345del	NP_001340128.1:n.*343_*345del
NM_001353200.1:c.*343_*345del	NP_001340129.1:n.*343_*345del
NR_148391.1:n.2395_2397del
NR_148392.1:n.2613_2615del
NR_148393.1:n.2710_2712del
NR_148394.1:n.2464_2466del
NR_148395.1:n.2862_2864del
NR_148396.1:n.2496_2498del
NR_148397.1:n.2621_2623del
NR_148398.1:n.2576_2578del
NR_148399.1:n.2926_2928del
NR_148400.1:n.2701_2703del
XM_005272162.3:c.*343_*345del	XP_005272219.1:n.*343_*345del
XM_006716932.2:c.*343_*345del	XP_006716995.1:n.*343_*345del
XM_011518140.2:c.*343_*345del	XP_011516442.1:n.*343_*345del
XM_011518141.2:c.*343_*345del	XP_011516443.1:n.*343_*345del
XM_011518142.2:c.*343_*345del	XP_011516444.1:n.*343_*345del
XM_011518143.2:c.*343_*345del	XP_011516445.1:n.*343_*345del
XM_011518145.2:c.*343_*345del	XP_011516447.1:n.*343_*345del
XM_017014205.2:c.*343_*345del	XP_016869694.1:n.*343_*345del
XM_024447380.1:c.*343_*345del	XP_024303148.1:n.*343_*345del
XM_024447381.1:c.*343_*345del	XP_024303149.1:n.*343_*345del
XM_024447382.1:c.*343_*345del	XP_024303150.1:n.*343_*345del
XR_001746160.2:n.2515_2517del
XR_001746162.2:n.2896_2898del
XR_001746164.1:n.2613_2615del
XR_001746166.2:n.2732_2734del
NM_001077365.2:c.*343_*345del MANE Select	NP_001070833.1:n.*343_*345del
NM_001077366.2:c.*343_*345del	NP_001070834.1:n.*343_*345del
NM_001136113.2:c.*343_*345del	NP_001129585.1:n.*343_*345del
NM_001136114.2:c.*343_*345del	NP_001129586.1:n.*343_*345del
NM_001353193.2:c.*343_*345del	NP_001340122.2:n.*343_*345del
NM_001353194.2:c.*343_*345del	NP_001340123.1:n.*343_*345del
NM_001353195.2:c.*343_*345del	NP_001340124.1:n.*343_*345del
NM_001353196.2:c.*343_*345del	NP_001340125.1:n.*343_*345del
NM_001353197.2:c.*343_*345del	NP_001340126.2:n.*343_*345del
NM_001353198.2:c.*343_*345del	NP_001340127.2:n.*343_*345del
NM_001353199.2:c.*343_*345del	NP_001340128.2:n.*343_*345del
NM_001353200.2:c.*343_*345del	NP_001340129.1:n.*343_*345del
NM_001374689.1:c.*343_*345del	NP_001361618.1:n.*343_*345del
NM_001374690.1:c.*343_*345del	NP_001361619.1:n.*343_*345del
NM_001374691.1:c.*343_*345del	NP_001361620.1:n.*343_*345del
NM_001374692.1:c.*343_*345del	NP_001361621.1:n.*343_*345del
NM_001374693.1:c.*343_*345del	NP_001361622.1:n.*343_*345del
NM_001374695.1:c.*343_*345del	NP_001361624.1:n.*343_*345del
NM_007171.4:c.*343_*345del	NP_009102.4:n.*343_*345del
NR_148391.2:n.2379_2381del
NR_148392.2:n.2597_2599del
NR_148393.2:n.2694_2696del
NR_148394.2:n.2448_2450del
NR_148395.2:n.2846_2848del
NR_148396.2:n.2480_2482del
NR_148397.2:n.2605_2607del
NR_148398.2:n.2560_2562del
NR_148399.2:n.2910_2912del
NR_148400.2:n.2685_2687del