Canonical Allele Identifier: CA2692222293

Gene: POMT1

Linked Data

• gnomAD v4: 9-131523258-G-GAA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523261_131523262dup , CM000671.2:g.131523261_131523262dup	GRCh38
NC_000009.11:g.134398648_134398649dup , CM000671.1:g.134398648_134398649dup	GRCh37
NC_000009.10:g.133388469_133388470dup	NCBI36
NG_008896.1:g.25360_25361dup
NG_008896.2:g.25360_25361dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.*155_*156dup	ENSP00000343034.7:n.*155_*156dup
ENST00000404875.7:n.2873_2874dup
ENST00000677295.2:c.*2677_*2678dup	ENSP00000504346.2:n.*2677_*2678dup
ENST00000678264.2:c.*2516_*2517dup	ENSP00000503157.2:n.*2516_*2517dup
ENST00000682070.1:n.2643_2644dup
ENST00000682639.1:c.239+91_239+92dup
ENST00000682813.1:n.2730_2731dup
ENST00000683231.1:c.240-57_240-56dup
ENST00000683392.1:n.4925_4926dup
ENST00000683900.1:n.4233_4234dup
ENST00000684062.1:n.2999_3000dup
ENST00000684399.1:c.240-92_240-91dup
ENST00000684579.1:n.4179_4180dup
ENST00000341012.12:c.*155_*156dup	ENSP00000343034.7:n.*155_*156dup
ENST00000372220.5:c.*155_*156dup	ENSP00000361294.5:n.*155_*156dup
ENST00000372228.9:c.*155_*156dup	ENSP00000361302.3:n.*155_*156dup
ENST00000402686.8:c.*155_*156dup MANE Select	ENSP00000385797.4:n.*155_*156dup
ENST00000676640.1:c.*155_*156dup	ENSP00000503281.1:n.*155_*156dup
ENST00000676803.1:c.*155_*156dup	ENSP00000503093.1:n.*155_*156dup
ENST00000676835.1:c.*1548_*1549dup	ENSP00000502911.1:n.*1548_*1549dup
ENST00000677029.1:c.*155_*156dup	ENSP00000502936.1:n.*155_*156dup
ENST00000677099.1:c.*2043_*2044dup	ENSP00000504553.1:n.*2043_*2044dup
ENST00000677216.1:c.*155_*156dup	ENSP00000503772.1:n.*155_*156dup
ENST00000677295.1:c.*1555_*1556dup	ENSP00000504346.1:n.*1555_*1556dup
ENST00000677444.1:c.2278_2279dup
ENST00000677626.1:c.*155_*156dup	ENSP00000503552.1:n.*155_*156dup
ENST00000677853.1:c.*1341_*1342dup	ENSP00000503488.1:n.*1341_*1342dup
ENST00000678303.1:c.*155_*156dup	ENSP00000503696.1:n.*155_*156dup
ENST00000678366.1:c.*2582_*2583dup	ENSP00000504353.1:n.*2582_*2583dup
ENST00000678546.1:c.*2278_*2279dup	ENSP00000503062.1:n.*2278_*2279dup
ENST00000678548.1:c.*2472_*2473dup	ENSP00000503934.1:n.*2472_*2473dup
ENST00000678626.1:n.2169_2170dup
ENST00000678739.1:c.*2499_*2500dup	ENSP00000503806.1:n.*2499_*2500dup
ENST00000678833.1:c.*2085_*2086dup	ENSP00000503893.1:n.*2085_*2086dup
ENST00000679023.1:c.*65-86_*65-85dup	ENSP00000503718.1:n.*65-86_*65-85dup
ENST00000679076.1:c.1952_1953dup
ENST00000679111.1:c.*1089_*1090dup	ENSP00000504257.1:n.*1089_*1090dup
ENST00000341012.11:c.*155_*156dup	ENSP00000343034.7:n.*155_*156dup
ENST00000372220.4:c.1196_1197dup	ENSP00000361294.4:n.1196_1197dup
ENST00000372228.7:c.*155_*156dup	ENSP00000361302.3:n.*155_*156dup
ENST00000402686.7:c.*155_*156dup	ENSP00000385797.3:n.*155_*156dup
ENST00000404875.6:c.*155_*156dup	ENSP00000384531.2:n.*155_*156dup
ENST00000423007.5:c.*155_*156dup	ENSP00000404119.1:n.*155_*156dup
ENST00000485278.5:n.2883_2884dup
NM_001077365.1:c.*155_*156dup	NP_001070833.1:n.*155_*156dup
NM_001077366.1:c.*155_*156dup	NP_001070834.1:n.*155_*156dup
NM_001136113.1:c.*155_*156dup	NP_001129585.1:n.*155_*156dup
NM_001136114.1:c.*155_*156dup	NP_001129586.1:n.*155_*156dup
NM_007171.3:c.*155_*156dup	NP_009102.3:n.*155_*156dup
XM_005272156.1:c.*155_*156dup	XP_005272213.1:n.*155_*156dup
XM_005272158.1:c.*155_*156dup	XP_005272215.1:n.*155_*156dup
XM_005272159.1:c.*155_*156dup	XP_005272216.1:n.*155_*156dup
XM_005272162.1:c.*155_*156dup	XP_005272219.1:n.*155_*156dup
XM_006716932.1:c.*155_*156dup	XP_006716995.1:n.*155_*156dup
XM_011518140.1:c.*155_*156dup	XP_011516442.1:n.*155_*156dup
XM_011518141.1:c.*155_*156dup	XP_011516443.1:n.*155_*156dup
XM_011518142.1:c.*155_*156dup	XP_011516444.1:n.*155_*156dup
XM_011518143.1:c.*155_*156dup	XP_011516445.1:n.*155_*156dup
XM_011518145.1:c.*155_*156dup	XP_011516447.1:n.*155_*156dup
XM_011518147.1:c.*155_*156dup	XP_011516449.1:n.*155_*156dup
XR_929703.1:n.2485-86_2485-85dup
NM_001353193.1:c.*155_*156dup	NP_001340122.1:n.*155_*156dup
NM_001353194.1:c.*155_*156dup	NP_001340123.1:n.*155_*156dup
NM_001353195.1:c.*155_*156dup	NP_001340124.1:n.*155_*156dup
NM_001353196.1:c.*155_*156dup	NP_001340125.1:n.*155_*156dup
NM_001353197.1:c.*155_*156dup	NP_001340126.1:n.*155_*156dup
NM_001353198.1:c.*155_*156dup	NP_001340127.1:n.*155_*156dup
NM_001353199.1:c.*155_*156dup	NP_001340128.1:n.*155_*156dup
NM_001353200.1:c.*155_*156dup	NP_001340129.1:n.*155_*156dup
NR_148391.1:n.2293-86_2293-85dup
NR_148392.1:n.2511-86_2511-85dup
NR_148393.1:n.2522_2523dup
NR_148394.1:n.2276_2277dup
NR_148395.1:n.2674_2675dup
NR_148396.1:n.2308_2309dup
NR_148397.1:n.2433_2434dup
NR_148398.1:n.2388_2389dup
NR_148399.1:n.2824-86_2824-85dup
NR_148400.1:n.2513_2514dup
XM_005272162.3:c.*155_*156dup	XP_005272219.1:n.*155_*156dup
XM_006716932.2:c.*155_*156dup	XP_006716995.1:n.*155_*156dup
XM_011518140.2:c.*155_*156dup	XP_011516442.1:n.*155_*156dup
XM_011518141.2:c.*155_*156dup	XP_011516443.1:n.*155_*156dup
XM_011518142.2:c.*155_*156dup	XP_011516444.1:n.*155_*156dup
XM_011518143.2:c.*155_*156dup	XP_011516445.1:n.*155_*156dup
XM_011518145.2:c.*155_*156dup	XP_011516447.1:n.*155_*156dup
XM_017014205.2:c.*155_*156dup	XP_016869694.1:n.*155_*156dup
XM_024447380.1:c.*155_*156dup	XP_024303148.1:n.*155_*156dup
XM_024447381.1:c.*155_*156dup	XP_024303149.1:n.*155_*156dup
XM_024447382.1:c.*155_*156dup	XP_024303150.1:n.*155_*156dup
XR_001746160.2:n.2413-86_2413-85dup
XR_001746162.2:n.2708_2709dup
XR_001746164.1:n.2425_2426dup
XR_001746166.2:n.2630-86_2630-85dup
NM_001077365.2:c.*155_*156dup MANE Select	NP_001070833.1:n.*155_*156dup
NM_001077366.2:c.*155_*156dup	NP_001070834.1:n.*155_*156dup
NM_001136113.2:c.*155_*156dup	NP_001129585.1:n.*155_*156dup
NM_001136114.2:c.*155_*156dup	NP_001129586.1:n.*155_*156dup
NM_001353193.2:c.*155_*156dup	NP_001340122.2:n.*155_*156dup
NM_001353194.2:c.*155_*156dup	NP_001340123.1:n.*155_*156dup
NM_001353195.2:c.*155_*156dup	NP_001340124.1:n.*155_*156dup
NM_001353196.2:c.*155_*156dup	NP_001340125.1:n.*155_*156dup
NM_001353197.2:c.*155_*156dup	NP_001340126.2:n.*155_*156dup
NM_001353198.2:c.*155_*156dup	NP_001340127.2:n.*155_*156dup
NM_001353199.2:c.*155_*156dup	NP_001340128.2:n.*155_*156dup
NM_001353200.2:c.*155_*156dup	NP_001340129.1:n.*155_*156dup
NM_001374689.1:c.*155_*156dup	NP_001361618.1:n.*155_*156dup
NM_001374690.1:c.*155_*156dup	NP_001361619.1:n.*155_*156dup
NM_001374691.1:c.*155_*156dup	NP_001361620.1:n.*155_*156dup
NM_001374692.1:c.*155_*156dup	NP_001361621.1:n.*155_*156dup
NM_001374693.1:c.*155_*156dup	NP_001361622.1:n.*155_*156dup
NM_001374695.1:c.*155_*156dup	NP_001361624.1:n.*155_*156dup
NM_007171.4:c.*155_*156dup	NP_009102.4:n.*155_*156dup
NR_148391.2:n.2277-86_2277-85dup
NR_148392.2:n.2495-86_2495-85dup
NR_148393.2:n.2506_2507dup
NR_148394.2:n.2260_2261dup
NR_148395.2:n.2658_2659dup
NR_148396.2:n.2292_2293dup
NR_148397.2:n.2417_2418dup
NR_148398.2:n.2372_2373dup
NR_148399.2:n.2808-86_2808-85dup
NR_148400.2:n.2497_2498dup