Canonical Allele Identifier: CA2692194217

Gene: POMT1

Linked Data

• gnomAD v4: 9-131509696-ATGTGTCTGAACTATTTC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131509700_131509716del , CM000671.2:g.131509700_131509716del	GRCh38
NC_000009.11:g.134385087_134385103del , CM000671.1:g.134385087_134385103del	GRCh37
NC_000009.10:g.133374908_133374924del	NCBI36
NG_008896.1:g.11799_11815del
NG_008896.2:g.11799_11815del

Transcript Alleles

HGVS	Amino-acid change
ENST00000341012.13:c.378-43_378-27del	ENSP00000343034.7:n.378-43_378-27del
ENST00000404875.7:n.649-43_649-27del
ENST00000423007.6:c.531-43_531-27del	ENSP00000404119.2:n.531-43_531-27del
ENST00000462375.7:n.113-203_113-187del
ENST00000677295.2:c.*616-43_*616-27del	ENSP00000504346.2:n.*616-43_*616-27del
ENST00000678264.2:c.*723-43_*723-27del	ENSP00000503157.2:n.*723-43_*723-27del
ENST00000678942.2:c.235-43_235-27del	ENSP00000504690.2:n.235-43_235-27del
ENST00000682070.1:n.737-43_737-27del
ENST00000682813.1:n.542-43_542-27del
ENST00000683392.1:n.3024-43_3024-27del
ENST00000683712.1:n.677-43_677-27del
ENST00000683900.1:n.1604-43_1604-27del
ENST00000684062.1:n.849-43_849-27del
ENST00000684579.1:n.2118-43_2118-27del
ENST00000341012.12:c.378-43_378-27del	ENSP00000343034.7:n.378-43_378-27del
ENST00000372220.5:c.-145-2341_-145-2325del	ENSP00000361294.5:n.-145-2341_-145-2325del
ENST00000372228.9:c.540-43_540-27del	ENSP00000361302.3:n.540-43_540-27del
ENST00000402686.8:c.540-43_540-27del MANE Select	ENSP00000385797.4:n.540-43_540-27del
ENST00000415075.6:c.*250-657_*250-641del	ENSP00000405149.2:n.*250-657_*250-641del
ENST00000430619.2:c.84-43_84-27del	ENSP00000402083.2:n.84-43_84-27del
ENST00000462375.6:n.364-43_364-27del
ENST00000676640.1:c.540-43_540-27del	ENSP00000503281.1:n.540-43_540-27del
ENST00000676803.1:c.-126-560_-126-544del	ENSP00000503093.1:n.-126-560_-126-544del
ENST00000676835.1:c.189-560_189-544del	ENSP00000502911.1:n.189-560_189-544del
ENST00000676915.1:c.393-43_393-27del	ENSP00000504628.1:n.393-43_393-27del
ENST00000677028.1:c.266-43_266-27del	ENSP00000503896.1:n.266-43_266-27del
ENST00000677029.1:c.84-43_84-27del	ENSP00000502936.1:n.84-43_84-27del
ENST00000677099.1:c.*250-43_*250-27del	ENSP00000504553.1:n.*250-43_*250-27del
ENST00000677216.1:c.189-43_189-27del	ENSP00000503772.1:n.189-43_189-27del
ENST00000677293.1:c.-29-657_-29-641del	ENSP00000504278.1:n.-29-657_-29-641del
ENST00000677295.1:c.378-43_378-27del	ENSP00000504346.1:n.378-43_378-27del
ENST00000677444.1:c.83-43_83-27del
ENST00000677586.1:n.181-560_181-544del
ENST00000677626.1:c.378-43_378-27del	ENSP00000503552.1:n.378-43_378-27del
ENST00000677677.1:n.500-43_500-27del
ENST00000677729.1:c.428-43_428-27del	ENSP00000503581.1:n.428-43_428-27del
ENST00000677853.1:c.378-657_378-641del	ENSP00000503488.1:n.378-657_378-641del
ENST00000677944.1:c.59-657_59-641del
ENST00000678264.1:c.540-43_540-27del	ENSP00000503157.1:n.540-43_540-27del
ENST00000678303.1:c.450-43_450-27del	ENSP00000503696.1:n.450-43_450-27del
ENST00000678366.1:c.*723-43_*723-27del	ENSP00000504353.1:n.*723-43_*723-27del
ENST00000678546.1:c.378-43_378-27del	ENSP00000503062.1:n.378-43_378-27del
ENST00000678548.1:c.*250-43_*250-27del	ENSP00000503934.1:n.*250-43_*250-27del
ENST00000678626.1:n.232-43_232-27del
ENST00000678693.1:n.180_196del
ENST00000678707.1:n.178-43_178-27del
ENST00000678739.1:c.*598-43_*598-27del	ENSP00000503806.1:n.*598-43_*598-27del
ENST00000678833.1:c.428-43_428-27del	ENSP00000503893.1:n.428-43_428-27del
ENST00000679023.1:c.378-43_378-27del	ENSP00000503718.1:n.378-43_378-27del
ENST00000679076.1:c.251-43_251-27del
ENST00000679111.1:c.540-43_540-27del	ENSP00000504257.1:n.540-43_540-27del
ENST00000679189.1:c.189-43_189-27del	ENSP00000503356.1:n.189-43_189-27del
ENST00000341012.11:c.378-43_378-27del	ENSP00000343034.7:n.378-43_378-27del
ENST00000372228.7:c.540-43_540-27del	ENSP00000361302.3:n.540-43_540-27del
ENST00000402686.7:c.540-43_540-27del	ENSP00000385797.3:n.540-43_540-27del
ENST00000404875.6:c.189-43_189-27del	ENSP00000384531.2:n.189-43_189-27del
ENST00000415075.5:c.189-657_189-641del	ENSP00000405149.1:n.189-657_189-641del
ENST00000423007.5:c.540-43_540-27del	ENSP00000404119.1:n.540-43_540-27del
ENST00000430619.1:c.189-43_189-27del	ENSP00000402083.1:n.189-43_189-27del
ENST00000441334.5:c.189-43_189-27del	ENSP00000395060.1:n.189-43_189-27del
ENST00000448212.5:c.378-43_378-27del	ENSP00000403736.1:n.378-43_378-27del
ENST00000462375.5:n.98-43_98-27del
NM_001077365.1:c.540-43_540-27del	NP_001070833.1:n.540-43_540-27del
NM_001077366.1:c.378-43_378-27del	NP_001070834.1:n.378-43_378-27del
NM_001136113.1:c.540-43_540-27del	NP_001129585.1:n.540-43_540-27del
NM_001136114.1:c.189-43_189-27del	NP_001129586.1:n.189-43_189-27del
NM_007171.3:c.540-43_540-27del	NP_009102.3:n.540-43_540-27del
XM_005272156.1:c.540-43_540-27del	XP_005272213.1:n.540-43_540-27del
XM_005272158.1:c.378-43_378-27del	XP_005272215.1:n.378-43_378-27del
XM_005272159.1:c.189-43_189-27del	XP_005272216.1:n.189-43_189-27del
XM_005272162.1:c.-860-43_-860-27del	XP_005272219.1:n.-860-43_-860-27del
XM_006716932.1:c.189-43_189-27del	XP_006716995.1:n.189-43_189-27del
XM_011518140.1:c.393-43_393-27del	XP_011516442.1:n.393-43_393-27del
XM_011518141.1:c.393-43_393-27del	XP_011516443.1:n.393-43_393-27del
XM_011518142.1:c.231-43_231-27del	XP_011516444.1:n.231-43_231-27del
XM_011518143.1:c.286-43_286-27del	XP_011516445.1:n.286-43_286-27del
XM_011518144.1:c.540-43_540-27del	XP_011516446.1:n.540-43_540-27del
XM_011518145.1:c.84-43_84-27del	XP_011516447.1:n.84-43_84-27del
XM_011518146.1:c.286-43_286-27del	XP_011516448.1:n.286-43_286-27del
XR_929703.1:n.716-43_716-27del
NM_001353193.1:c.540-43_540-27del	NP_001340122.1:n.540-43_540-27del
NM_001353194.1:c.378-43_378-27del	NP_001340123.1:n.378-43_378-27del
NM_001353195.1:c.189-43_189-27del	NP_001340124.1:n.189-43_189-27del
NM_001353196.1:c.450-43_450-27del	NP_001340125.1:n.450-43_450-27del
NM_001353197.1:c.378-43_378-27del	NP_001340126.1:n.378-43_378-27del
NM_001353198.1:c.378-43_378-27del	NP_001340127.1:n.378-43_378-27del
NM_001353199.1:c.189-43_189-27del	NP_001340128.1:n.189-43_189-27del
NM_001353200.1:c.84-43_84-27del	NP_001340129.1:n.84-43_84-27del
NR_148391.1:n.590-43_590-27del
NR_148392.1:n.742-43_742-27del
NR_148393.1:n.590-43_590-27del
NR_148394.1:n.478-43_478-27del
NR_148395.1:n.742-43_742-27del
NR_148396.1:n.371-43_371-27del
NR_148397.1:n.635-43_635-27del
NR_148398.1:n.590-43_590-27del
NR_148399.1:n.982-43_982-27del
NR_148400.1:n.576-43_576-27del
XM_005272162.3:c.-860-43_-860-27del	XP_005272219.1:n.-860-43_-860-27del
XM_006716932.2:c.189-43_189-27del	XP_006716995.1:n.189-43_189-27del
XM_011518140.2:c.393-43_393-27del	XP_011516442.1:n.393-43_393-27del
XM_011518141.2:c.393-43_393-27del	XP_011516443.1:n.393-43_393-27del
XM_011518142.2:c.231-43_231-27del	XP_011516444.1:n.231-43_231-27del
XM_011518143.2:c.286-43_286-27del	XP_011516445.1:n.286-43_286-27del
XM_011518145.2:c.84-43_84-27del	XP_011516447.1:n.84-43_84-27del
XM_017014205.2:c.-663-43_-663-27del	XP_016869694.1:n.-663-43_-663-27del
XM_024447380.1:c.-597-43_-597-27del	XP_024303148.1:n.-597-43_-597-27del
XM_024447381.1:c.-549-43_-549-27del	XP_024303149.1:n.-549-43_-549-27del
XM_024447382.1:c.-860-43_-860-27del	XP_024303150.1:n.-860-43_-860-27del
XR_001746160.2:n.710-43_710-27del
XR_001746162.2:n.710-43_710-27del
XR_001746164.1:n.488-43_488-27del
XR_001746166.2:n.664-43_664-27del
NM_001077365.2:c.540-43_540-27del MANE Select	NP_001070833.1:n.540-43_540-27del
NM_001077366.2:c.378-43_378-27del	NP_001070834.1:n.378-43_378-27del
NM_001136113.2:c.540-43_540-27del	NP_001129585.1:n.540-43_540-27del
NM_001136114.2:c.189-43_189-27del	NP_001129586.1:n.189-43_189-27del
NM_001353193.2:c.540-43_540-27del	NP_001340122.2:n.540-43_540-27del
NM_001353194.2:c.378-43_378-27del	NP_001340123.1:n.378-43_378-27del
NM_001353195.2:c.189-43_189-27del	NP_001340124.1:n.189-43_189-27del
NM_001353196.2:c.450-43_450-27del	NP_001340125.1:n.450-43_450-27del
NM_001353197.2:c.378-43_378-27del	NP_001340126.2:n.378-43_378-27del
NM_001353198.2:c.378-43_378-27del	NP_001340127.2:n.378-43_378-27del
NM_001353199.2:c.189-43_189-27del	NP_001340128.2:n.189-43_189-27del
NM_001353200.2:c.84-43_84-27del	NP_001340129.1:n.84-43_84-27del
NM_001374689.1:c.378-43_378-27del	NP_001361618.1:n.378-43_378-27del
NM_001374690.1:c.540-43_540-27del	NP_001361619.1:n.540-43_540-27del
NM_001374691.1:c.189-43_189-27del	NP_001361620.1:n.189-43_189-27del
NM_001374692.1:c.189-43_189-27del	NP_001361621.1:n.189-43_189-27del
NM_001374693.1:c.378-43_378-27del	NP_001361622.1:n.378-43_378-27del
NM_001374695.1:c.84-43_84-27del	NP_001361624.1:n.84-43_84-27del
NM_007171.4:c.540-43_540-27del	NP_009102.4:n.540-43_540-27del
NR_148391.2:n.574-43_574-27del
NR_148392.2:n.726-43_726-27del
NR_148393.2:n.574-43_574-27del
NR_148394.2:n.462-43_462-27del
NR_148395.2:n.726-43_726-27del
NR_148396.2:n.355-43_355-27del
NR_148397.2:n.619-43_619-27del
NR_148398.2:n.574-43_574-27del
NR_148399.2:n.966-43_966-27del
NR_148400.2:n.560-43_560-27del