Canonical Allele Identifier: CA2692222414

Gene: POMT1

Linked Data

• gnomAD v4: 9-131523292-A-AAGTT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523294_131523297dup , CM000671.2:g.131523294_131523297dup	GRCh38
NC_000009.11:g.134398681_134398684dup , CM000671.1:g.134398681_134398684dup	GRCh37
NC_000009.10:g.133388502_133388505dup	NCBI36
NG_008896.1:g.25393_25396dup
NG_008896.2:g.25393_25396dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000341012.13:c.*188_*191dup	ENSP00000343034.7:n.*188_*191dup
ENST00000404875.7:n.2906_2909dup
ENST00000677295.2:c.*2710_*2713dup	ENSP00000504346.2:n.*2710_*2713dup
ENST00000678264.2:c.*2549_*2552dup	ENSP00000503157.2:n.*2549_*2552dup
ENST00000682070.1:n.2676_2679dup
ENST00000682639.1:c.239+124_239+127dup
ENST00000682813.1:n.2763_2766dup
ENST00000683231.1:c.240-24_240-21dup
ENST00000683392.1:n.4958_4961dup
ENST00000683900.1:n.4266_4269dup
ENST00000684062.1:n.3032_3035dup
ENST00000684399.1:c.240-59_240-56dup
ENST00000684579.1:n.4212_4215dup
ENST00000341012.12:c.*188_*191dup	ENSP00000343034.7:n.*188_*191dup
ENST00000372220.5:c.*188_*191dup	ENSP00000361294.5:n.*188_*191dup
ENST00000372228.9:c.*188_*191dup	ENSP00000361302.3:n.*188_*191dup
ENST00000402686.8:c.*188_*191dup MANE Select	ENSP00000385797.4:n.*188_*191dup
ENST00000676640.1:c.*188_*191dup	ENSP00000503281.1:n.*188_*191dup
ENST00000676803.1:c.*188_*191dup	ENSP00000503093.1:n.*188_*191dup
ENST00000676835.1:c.*1581_*1584dup	ENSP00000502911.1:n.*1581_*1584dup
ENST00000677029.1:c.*188_*191dup	ENSP00000502936.1:n.*188_*191dup
ENST00000677099.1:c.*2076_*2079dup	ENSP00000504553.1:n.*2076_*2079dup
ENST00000677216.1:c.*188_*191dup	ENSP00000503772.1:n.*188_*191dup
ENST00000677295.1:c.*1588_*1591dup	ENSP00000504346.1:n.*1588_*1591dup
ENST00000677444.1:c.2311_2314dup
ENST00000677626.1:c.*188_*191dup	ENSP00000503552.1:n.*188_*191dup
ENST00000677853.1:c.*1374_*1377dup	ENSP00000503488.1:n.*1374_*1377dup
ENST00000678303.1:c.*188_*191dup	ENSP00000503696.1:n.*188_*191dup
ENST00000678366.1:c.*2615_*2618dup	ENSP00000504353.1:n.*2615_*2618dup
ENST00000678546.1:c.*2311_*2314dup	ENSP00000503062.1:n.*2311_*2314dup
ENST00000678548.1:c.*2505_*2508dup	ENSP00000503934.1:n.*2505_*2508dup
ENST00000678626.1:n.2202_2205dup
ENST00000678739.1:c.*2532_*2535dup	ENSP00000503806.1:n.*2532_*2535dup
ENST00000678833.1:c.*2118_*2121dup	ENSP00000503893.1:n.*2118_*2121dup
ENST00000679023.1:c.*65-53_*65-50dup	ENSP00000503718.1:n.*65-53_*65-50dup
ENST00000679076.1:c.1985_1988dup
ENST00000679111.1:c.*1122_*1125dup	ENSP00000504257.1:n.*1122_*1125dup
ENST00000341012.11:c.*188_*191dup	ENSP00000343034.7:n.*188_*191dup
ENST00000372220.4:c.1229_1232dup	ENSP00000361294.4:n.1229_1232dup
ENST00000372228.7:c.*188_*191dup	ENSP00000361302.3:n.*188_*191dup
ENST00000402686.7:c.*188_*191dup	ENSP00000385797.3:n.*188_*191dup
ENST00000404875.6:c.*188_*191dup	ENSP00000384531.2:n.*188_*191dup
ENST00000423007.5:c.*188_*191dup	ENSP00000404119.1:n.*188_*191dup
ENST00000485278.5:n.2916_2919dup
NM_001077365.1:c.*188_*191dup	NP_001070833.1:n.*188_*191dup
NM_001077366.1:c.*188_*191dup	NP_001070834.1:n.*188_*191dup
NM_001136113.1:c.*188_*191dup	NP_001129585.1:n.*188_*191dup
NM_001136114.1:c.*188_*191dup	NP_001129586.1:n.*188_*191dup
NM_007171.3:c.*188_*191dup	NP_009102.3:n.*188_*191dup
XM_005272156.1:c.*188_*191dup	XP_005272213.1:n.*188_*191dup
XM_005272158.1:c.*188_*191dup	XP_005272215.1:n.*188_*191dup
XM_005272159.1:c.*188_*191dup	XP_005272216.1:n.*188_*191dup
XM_005272162.1:c.*188_*191dup	XP_005272219.1:n.*188_*191dup
XM_006716932.1:c.*188_*191dup	XP_006716995.1:n.*188_*191dup
XM_011518140.1:c.*188_*191dup	XP_011516442.1:n.*188_*191dup
XM_011518141.1:c.*188_*191dup	XP_011516443.1:n.*188_*191dup
XM_011518142.1:c.*188_*191dup	XP_011516444.1:n.*188_*191dup
XM_011518143.1:c.*188_*191dup	XP_011516445.1:n.*188_*191dup
XM_011518145.1:c.*188_*191dup	XP_011516447.1:n.*188_*191dup
XM_011518147.1:c.*188_*191dup	XP_011516449.1:n.*188_*191dup
XR_929703.1:n.2485-53_2485-50dup
NM_001353193.1:c.*188_*191dup	NP_001340122.1:n.*188_*191dup
NM_001353194.1:c.*188_*191dup	NP_001340123.1:n.*188_*191dup
NM_001353195.1:c.*188_*191dup	NP_001340124.1:n.*188_*191dup
NM_001353196.1:c.*188_*191dup	NP_001340125.1:n.*188_*191dup
NM_001353197.1:c.*188_*191dup	NP_001340126.1:n.*188_*191dup
NM_001353198.1:c.*188_*191dup	NP_001340127.1:n.*188_*191dup
NM_001353199.1:c.*188_*191dup	NP_001340128.1:n.*188_*191dup
NM_001353200.1:c.*188_*191dup	NP_001340129.1:n.*188_*191dup
NR_148391.1:n.2293-53_2293-50dup
NR_148392.1:n.2511-53_2511-50dup
NR_148393.1:n.2555_2558dup
NR_148394.1:n.2309_2312dup
NR_148395.1:n.2707_2710dup
NR_148396.1:n.2341_2344dup
NR_148397.1:n.2466_2469dup
NR_148398.1:n.2421_2424dup
NR_148399.1:n.2824-53_2824-50dup
NR_148400.1:n.2546_2549dup
XM_005272162.3:c.*188_*191dup	XP_005272219.1:n.*188_*191dup
XM_006716932.2:c.*188_*191dup	XP_006716995.1:n.*188_*191dup
XM_011518140.2:c.*188_*191dup	XP_011516442.1:n.*188_*191dup
XM_011518141.2:c.*188_*191dup	XP_011516443.1:n.*188_*191dup
XM_011518142.2:c.*188_*191dup	XP_011516444.1:n.*188_*191dup
XM_011518143.2:c.*188_*191dup	XP_011516445.1:n.*188_*191dup
XM_011518145.2:c.*188_*191dup	XP_011516447.1:n.*188_*191dup
XM_017014205.2:c.*188_*191dup	XP_016869694.1:n.*188_*191dup
XM_024447380.1:c.*188_*191dup	XP_024303148.1:n.*188_*191dup
XM_024447381.1:c.*188_*191dup	XP_024303149.1:n.*188_*191dup
XM_024447382.1:c.*188_*191dup	XP_024303150.1:n.*188_*191dup
XR_001746160.2:n.2413-53_2413-50dup
XR_001746162.2:n.2741_2744dup
XR_001746164.1:n.2458_2461dup
XR_001746166.2:n.2630-53_2630-50dup
NM_001077365.2:c.*188_*191dup MANE Select	NP_001070833.1:n.*188_*191dup
NM_001077366.2:c.*188_*191dup	NP_001070834.1:n.*188_*191dup
NM_001136113.2:c.*188_*191dup	NP_001129585.1:n.*188_*191dup
NM_001136114.2:c.*188_*191dup	NP_001129586.1:n.*188_*191dup
NM_001353193.2:c.*188_*191dup	NP_001340122.2:n.*188_*191dup
NM_001353194.2:c.*188_*191dup	NP_001340123.1:n.*188_*191dup
NM_001353195.2:c.*188_*191dup	NP_001340124.1:n.*188_*191dup
NM_001353196.2:c.*188_*191dup	NP_001340125.1:n.*188_*191dup
NM_001353197.2:c.*188_*191dup	NP_001340126.2:n.*188_*191dup
NM_001353198.2:c.*188_*191dup	NP_001340127.2:n.*188_*191dup
NM_001353199.2:c.*188_*191dup	NP_001340128.2:n.*188_*191dup
NM_001353200.2:c.*188_*191dup	NP_001340129.1:n.*188_*191dup
NM_001374689.1:c.*188_*191dup	NP_001361618.1:n.*188_*191dup
NM_001374690.1:c.*188_*191dup	NP_001361619.1:n.*188_*191dup
NM_001374691.1:c.*188_*191dup	NP_001361620.1:n.*188_*191dup
NM_001374692.1:c.*188_*191dup	NP_001361621.1:n.*188_*191dup
NM_001374693.1:c.*188_*191dup	NP_001361622.1:n.*188_*191dup
NM_001374695.1:c.*188_*191dup	NP_001361624.1:n.*188_*191dup
NM_007171.4:c.*188_*191dup	NP_009102.4:n.*188_*191dup
NR_148391.2:n.2277-53_2277-50dup
NR_148392.2:n.2495-53_2495-50dup
NR_148393.2:n.2539_2542dup
NR_148394.2:n.2293_2296dup
NR_148395.2:n.2691_2694dup
NR_148396.2:n.2325_2328dup
NR_148397.2:n.2450_2453dup
NR_148398.2:n.2405_2408dup
NR_148399.2:n.2808-53_2808-50dup
NR_148400.2:n.2530_2533dup