Canonical Allele Identifier: CA2692223715

Gene: POMT1

Linked Data

• gnomAD v4: 9-131523525-C-CTTTTTTAATGATA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523525_131523526insTTTTTTAATGATA , CM000671.2:g.131523525_131523526insTTTTTTAATGATA	GRCh38
NC_000009.11:g.134398912_134398913insTTTTTTAATGATA , CM000671.1:g.134398912_134398913insTTTTTTAATGATA	GRCh37
NC_000009.10:g.133388733_133388734insTTTTTTAATGATA	NCBI36
NG_008896.1:g.25624_25625insTTTTTTAATGATA
NG_008896.2:g.25624_25625insTTTTTTAATGATA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.*419_*420insTTTTTTAATGATA	ENSP00000343034.7:n.*419_*420insTTTTTTAATGATA
ENST00000404875.7:n.3137_3138insTTTTTTAATGATA
ENST00000677295.2:c.*2941_*2942insTTTTTTAATGATA	ENSP00000504346.2:n.*2941_*2942insTTTTTTAATGATA
ENST00000678264.2:c.*2780_*2781insTTTTTTAATGATA	ENSP00000503157.2:n.*2780_*2781insTTTTTTAATGATA
ENST00000682070.1:n.2907_2908insTTTTTTAATGATA
ENST00000682639.1:c.302_303insTTTTTTAATGATA
ENST00000682813.1:n.2994_2995insTTTTTTAATGATA
ENST00000683231.1:c.447_448insTTTTTTAATGATA
ENST00000683392.1:n.5189_5190insTTTTTTAATGATA
ENST00000683900.1:n.4497_4498insTTTTTTAATGATA
ENST00000684062.1:n.3263_3264insTTTTTTAATGATA
ENST00000684399.1:c.412_413insTTTTTTAATGATA
ENST00000684579.1:n.4443_4444insTTTTTTAATGATA
ENST00000341012.12:c.*419_*420insTTTTTTAATGATA	ENSP00000343034.7:n.*419_*420insTTTTTTAATGATA
ENST00000372220.5:c.*419_*420insTTTTTTAATGATA	ENSP00000361294.5:n.*419_*420insTTTTTTAATGATA
ENST00000372228.9:c.*419_*420insTTTTTTAATGATA	ENSP00000361302.3:n.*419_*420insTTTTTTAATGATA
ENST00000402686.8:c.*419_*420insTTTTTTAATGATA MANE Select	ENSP00000385797.4:n.*419_*420insTTTTTTAATGATA
ENST00000676640.1:c.*419_*420insTTTTTTAATGATA	ENSP00000503281.1:n.*419_*420insTTTTTTAATGATA
ENST00000676803.1:c.*419_*420insTTTTTTAATGATA	ENSP00000503093.1:n.*419_*420insTTTTTTAATGATA
ENST00000676835.1:c.*1812_*1813insTTTTTTAATGATA	ENSP00000502911.1:n.*1812_*1813insTTTTTTAATGATA
ENST00000677295.1:c.*1819_*1820insTTTTTTAATGATA	ENSP00000504346.1:n.*1819_*1820insTTTTTTAATGATA
ENST00000677444.1:c.2542_2543insTTTTTTAATGATA
ENST00000677626.1:c.*419_*420insTTTTTTAATGATA	ENSP00000503552.1:n.*419_*420insTTTTTTAATGATA
ENST00000677853.1:c.*1605_*1606insTTTTTTAATGATA	ENSP00000503488.1:n.*1605_*1606insTTTTTTAATGATA
ENST00000678546.1:c.*2542_*2543insTTTTTTAATGATA	ENSP00000503062.1:n.*2542_*2543insTTTTTTAATGATA
ENST00000678548.1:c.*2736_*2737insTTTTTTAATGATA	ENSP00000503934.1:n.*2736_*2737insTTTTTTAATGATA
ENST00000678626.1:n.2433_2434insTTTTTTAATGATA
ENST00000678739.1:c.*2763_*2764insTTTTTTAATGATA	ENSP00000503806.1:n.*2763_*2764insTTTTTTAATGATA
ENST00000678833.1:c.*2349_*2350insTTTTTTAATGATA	ENSP00000503893.1:n.*2349_*2350insTTTTTTAATGATA
ENST00000679023.1:c.*243_*244insTTTTTTAATGATA	ENSP00000503718.1:n.*243_*244insTTTTTTAATGATA
ENST00000679076.1:c.2216_2217insTTTTTTAATGATA
ENST00000679111.1:c.*1353_*1354insTTTTTTAATGATA	ENSP00000504257.1:n.*1353_*1354insTTTTTTAATGATA
ENST00000341012.11:c.*419_*420insTTTTTTAATGATA	ENSP00000343034.7:n.*419_*420insTTTTTTAATGATA
ENST00000372220.4:c.1460_1461insTTTTTTAATGATA	ENSP00000361294.4:n.1460_1461insTTTTTTAATGATA
ENST00000372228.7:c.*419_*420insTTTTTTAATGATA	ENSP00000361302.3:n.*419_*420insTTTTTTAATGATA
ENST00000402686.7:c.*419_*420insTTTTTTAATGATA	ENSP00000385797.3:n.*419_*420insTTTTTTAATGATA
ENST00000404875.6:c.*419_*420insTTTTTTAATGATA	ENSP00000384531.2:n.*419_*420insTTTTTTAATGATA
ENST00000423007.5:c.*419_*420insTTTTTTAATGATA	ENSP00000404119.1:n.*419_*420insTTTTTTAATGATA
ENST00000485278.5:n.3147_3148insTTTTTTAATGATA
NM_001077365.1:c.*419_*420insTTTTTTAATGATA	NP_001070833.1:n.*419_*420insTTTTTTAATGATA
NM_001077366.1:c.*419_*420insTTTTTTAATGATA	NP_001070834.1:n.*419_*420insTTTTTTAATGATA
NM_001136113.1:c.*419_*420insTTTTTTAATGATA	NP_001129585.1:n.*419_*420insTTTTTTAATGATA
NM_001136114.1:c.*419_*420insTTTTTTAATGATA	NP_001129586.1:n.*419_*420insTTTTTTAATGATA
NM_007171.3:c.*419_*420insTTTTTTAATGATA	NP_009102.3:n.*419_*420insTTTTTTAATGATA
XM_005272156.1:c.*419_*420insTTTTTTAATGATA	XP_005272213.1:n.*419_*420insTTTTTTAATGATA
XM_005272158.1:c.*419_*420insTTTTTTAATGATA	XP_005272215.1:n.*419_*420insTTTTTTAATGATA
XM_005272159.1:c.*419_*420insTTTTTTAATGATA	XP_005272216.1:n.*419_*420insTTTTTTAATGATA
XM_005272162.1:c.*419_*420insTTTTTTAATGATA	XP_005272219.1:n.*419_*420insTTTTTTAATGATA
XM_006716932.1:c.*419_*420insTTTTTTAATGATA	XP_006716995.1:n.*419_*420insTTTTTTAATGATA
XM_011518140.1:c.*419_*420insTTTTTTAATGATA	XP_011516442.1:n.*419_*420insTTTTTTAATGATA
XM_011518141.1:c.*419_*420insTTTTTTAATGATA	XP_011516443.1:n.*419_*420insTTTTTTAATGATA
XM_011518142.1:c.*419_*420insTTTTTTAATGATA	XP_011516444.1:n.*419_*420insTTTTTTAATGATA
XM_011518143.1:c.*419_*420insTTTTTTAATGATA	XP_011516445.1:n.*419_*420insTTTTTTAATGATA
XM_011518145.1:c.*419_*420insTTTTTTAATGATA	XP_011516447.1:n.*419_*420insTTTTTTAATGATA
XM_011518147.1:c.*419_*420insTTTTTTAATGATA	XP_011516449.1:n.*419_*420insTTTTTTAATGATA
XR_929703.1:n.2663_2664insTTTTTTAATGATA
NM_001353193.1:c.*419_*420insTTTTTTAATGATA	NP_001340122.1:n.*419_*420insTTTTTTAATGATA
NM_001353194.1:c.*419_*420insTTTTTTAATGATA	NP_001340123.1:n.*419_*420insTTTTTTAATGATA
NM_001353195.1:c.*419_*420insTTTTTTAATGATA	NP_001340124.1:n.*419_*420insTTTTTTAATGATA
NM_001353196.1:c.*419_*420insTTTTTTAATGATA	NP_001340125.1:n.*419_*420insTTTTTTAATGATA
NM_001353197.1:c.*419_*420insTTTTTTAATGATA	NP_001340126.1:n.*419_*420insTTTTTTAATGATA
NM_001353198.1:c.*419_*420insTTTTTTAATGATA	NP_001340127.1:n.*419_*420insTTTTTTAATGATA
NM_001353199.1:c.*419_*420insTTTTTTAATGATA	NP_001340128.1:n.*419_*420insTTTTTTAATGATA
NM_001353200.1:c.*419_*420insTTTTTTAATGATA	NP_001340129.1:n.*419_*420insTTTTTTAATGATA
NR_148391.1:n.2471_2472insTTTTTTAATGATA
NR_148392.1:n.2689_2690insTTTTTTAATGATA
NR_148393.1:n.2786_2787insTTTTTTAATGATA
NR_148394.1:n.2540_2541insTTTTTTAATGATA
NR_148395.1:n.2938_2939insTTTTTTAATGATA
NR_148396.1:n.2572_2573insTTTTTTAATGATA
NR_148397.1:n.2697_2698insTTTTTTAATGATA
NR_148398.1:n.2652_2653insTTTTTTAATGATA
NR_148399.1:n.3002_3003insTTTTTTAATGATA
NR_148400.1:n.2777_2778insTTTTTTAATGATA
XM_005272162.3:c.*419_*420insTTTTTTAATGATA	XP_005272219.1:n.*419_*420insTTTTTTAATGATA
XM_006716932.2:c.*419_*420insTTTTTTAATGATA	XP_006716995.1:n.*419_*420insTTTTTTAATGATA
XM_011518140.2:c.*419_*420insTTTTTTAATGATA	XP_011516442.1:n.*419_*420insTTTTTTAATGATA
XM_011518141.2:c.*419_*420insTTTTTTAATGATA	XP_011516443.1:n.*419_*420insTTTTTTAATGATA
XM_011518142.2:c.*419_*420insTTTTTTAATGATA	XP_011516444.1:n.*419_*420insTTTTTTAATGATA
XM_011518143.2:c.*419_*420insTTTTTTAATGATA	XP_011516445.1:n.*419_*420insTTTTTTAATGATA
XM_011518145.2:c.*419_*420insTTTTTTAATGATA	XP_011516447.1:n.*419_*420insTTTTTTAATGATA
XM_017014205.2:c.*419_*420insTTTTTTAATGATA	XP_016869694.1:n.*419_*420insTTTTTTAATGATA
XM_024447380.1:c.*419_*420insTTTTTTAATGATA	XP_024303148.1:n.*419_*420insTTTTTTAATGATA
XM_024447381.1:c.*419_*420insTTTTTTAATGATA	XP_024303149.1:n.*419_*420insTTTTTTAATGATA
XM_024447382.1:c.*419_*420insTTTTTTAATGATA	XP_024303150.1:n.*419_*420insTTTTTTAATGATA
XR_001746160.2:n.2591_2592insTTTTTTAATGATA
XR_001746162.2:n.2972_2973insTTTTTTAATGATA
XR_001746164.1:n.2689_2690insTTTTTTAATGATA
XR_001746166.2:n.2808_2809insTTTTTTAATGATA
NM_001077365.2:c.*419_*420insTTTTTTAATGATA MANE Select	NP_001070833.1:n.*419_*420insTTTTTTAATGATA
NM_001077366.2:c.*419_*420insTTTTTTAATGATA	NP_001070834.1:n.*419_*420insTTTTTTAATGATA
NM_001136113.2:c.*419_*420insTTTTTTAATGATA	NP_001129585.1:n.*419_*420insTTTTTTAATGATA
NM_001136114.2:c.*419_*420insTTTTTTAATGATA	NP_001129586.1:n.*419_*420insTTTTTTAATGATA
NM_001353193.2:c.*419_*420insTTTTTTAATGATA	NP_001340122.2:n.*419_*420insTTTTTTAATGATA
NM_001353194.2:c.*419_*420insTTTTTTAATGATA	NP_001340123.1:n.*419_*420insTTTTTTAATGATA
NM_001353195.2:c.*419_*420insTTTTTTAATGATA	NP_001340124.1:n.*419_*420insTTTTTTAATGATA
NM_001353196.2:c.*419_*420insTTTTTTAATGATA	NP_001340125.1:n.*419_*420insTTTTTTAATGATA
NM_001353197.2:c.*419_*420insTTTTTTAATGATA	NP_001340126.2:n.*419_*420insTTTTTTAATGATA
NM_001353198.2:c.*419_*420insTTTTTTAATGATA	NP_001340127.2:n.*419_*420insTTTTTTAATGATA
NM_001353199.2:c.*419_*420insTTTTTTAATGATA	NP_001340128.2:n.*419_*420insTTTTTTAATGATA
NM_001353200.2:c.*419_*420insTTTTTTAATGATA	NP_001340129.1:n.*419_*420insTTTTTTAATGATA
NM_001374689.1:c.*419_*420insTTTTTTAATGATA	NP_001361618.1:n.*419_*420insTTTTTTAATGATA
NM_001374690.1:c.*419_*420insTTTTTTAATGATA	NP_001361619.1:n.*419_*420insTTTTTTAATGATA
NM_001374691.1:c.*419_*420insTTTTTTAATGATA	NP_001361620.1:n.*419_*420insTTTTTTAATGATA
NM_001374692.1:c.*419_*420insTTTTTTAATGATA	NP_001361621.1:n.*419_*420insTTTTTTAATGATA
NM_001374693.1:c.*419_*420insTTTTTTAATGATA	NP_001361622.1:n.*419_*420insTTTTTTAATGATA
NM_001374695.1:c.*419_*420insTTTTTTAATGATA	NP_001361624.1:n.*419_*420insTTTTTTAATGATA
NM_007171.4:c.*419_*420insTTTTTTAATGATA	NP_009102.4:n.*419_*420insTTTTTTAATGATA
NR_148391.2:n.2455_2456insTTTTTTAATGATA
NR_148392.2:n.2673_2674insTTTTTTAATGATA
NR_148393.2:n.2770_2771insTTTTTTAATGATA
NR_148394.2:n.2524_2525insTTTTTTAATGATA
NR_148395.2:n.2922_2923insTTTTTTAATGATA
NR_148396.2:n.2556_2557insTTTTTTAATGATA
NR_148397.2:n.2681_2682insTTTTTTAATGATA
NR_148398.2:n.2636_2637insTTTTTTAATGATA
NR_148399.2:n.2986_2987insTTTTTTAATGATA
NR_148400.2:n.2761_2762insTTTTTTAATGATA