Canonical Allele Identifier: CA5293373

Gene: POMT1

Linked Data

• ClinVar Variation Id: 365275
• ClinVar RCV Id: RCV000384984 ; RCV000850366 ; RCV001861343 ; RCV002470848 ; RCV004530476 ; RCV003441850
• dbSNP Id: rs761863400
• ExAC: 9:134385380 CAAT / C
• gnomAD v2: 9-134385380-CAAT-C
• gnomAD v3: 9-131509993-CAAT-C
• gnomAD v4: 9-131509993-CAAT-C
• MyVariant Identifiers: chr9:g.134385381_134385383del (hg19) ; chr9:g.131509994_131509996del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131509994_131509996del , CM000671.2:g.131509994_131509996del	GRCh38
NC_000009.11:g.134385381_134385383del , CM000671.1:g.134385381_134385383del	GRCh37
NC_000009.10:g.133375202_133375204del	NCBI36
NG_008896.1:g.12093_12095del
NG_008896.2:g.12093_12095del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.535_537del	ENSP00000343034.7:p.Asn179del
ENST00000404875.7:n.806_808del
ENST00000423007.6:c.688_690del	ENSP00000404119.2:p.Asn230del
ENST00000462375.7:n.204_206del
ENST00000677295.2:c.*773_*775del	ENSP00000504346.2:n.*773_*775del
ENST00000678264.2:c.*880_*882del	ENSP00000503157.2:n.*880_*882del
ENST00000678942.2:c.392_394del	ENSP00000504690.2:p.Gln131_Cys132delinsArg
ENST00000682070.1:n.894_896del
ENST00000682813.1:n.699_701del
ENST00000683134.1:c.66+186_66+188del
ENST00000683392.1:n.3181_3183del
ENST00000683712.1:n.834_836del
ENST00000683855.1:n.92_94del
ENST00000683900.1:n.1761_1763del
ENST00000684062.1:n.1100_1102del
ENST00000684579.1:n.2275_2277del
ENST00000341012.12:c.535_537del	ENSP00000343034.7:p.Asn179del
ENST00000372220.5:c.-145-2047_-145-2045del	ENSP00000361294.5:n.-145-2047_-145-2045del
ENST00000372228.9:c.697_699del	ENSP00000361302.3:p.Asn233del
ENST00000402686.8:c.697_699del MANE Select	ENSP00000385797.4:p.Asn233del
ENST00000415075.6:c.*250-363_*250-361del	ENSP00000405149.2:n.*250-363_*250-361del
ENST00000430619.2:c.241_243del	ENSP00000402083.2:p.Asn81del
ENST00000462375.6:n.521_523del
ENST00000676640.1:c.697_699del	ENSP00000503281.1:p.Asn233del
ENST00000676803.1:c.-126-266_-126-264del	ENSP00000503093.1:n.-126-266_-126-264del
ENST00000676835.1:c.189-266_189-264del	ENSP00000502911.1:n.189-266_189-264del
ENST00000676915.1:c.550_552del	ENSP00000504628.1:p.Asn184del
ENST00000677029.1:c.241_243del	ENSP00000502936.1:p.Asn81del
ENST00000677099.1:c.*407_*409del	ENSP00000504553.1:n.*407_*409del
ENST00000677216.1:c.346_348del	ENSP00000503772.1:p.Asn116del
ENST00000677293.1:c.-29-363_-29-361del	ENSP00000504278.1:n.-29-363_-29-361del
ENST00000677295.1:c.535_537del	ENSP00000504346.1:p.Asn179del
ENST00000677444.1:c.240_242del
ENST00000677586.1:n.181-266_181-264del
ENST00000677626.1:c.535_537del	ENSP00000503552.1:p.Asn179del
ENST00000677677.1:n.657_659del
ENST00000677729.1:c.*144_*146del	ENSP00000503581.1:n.*144_*146del
ENST00000677853.1:c.378-363_378-361del	ENSP00000503488.1:n.378-363_378-361del
ENST00000677944.1:c.59-363_59-361del
ENST00000678264.1:c.697_699del	ENSP00000503157.1:p.Asn233del
ENST00000678303.1:c.607_609del	ENSP00000503696.1:p.Asn203del
ENST00000678366.1:c.*880_*882del	ENSP00000504353.1:n.*880_*882del
ENST00000678546.1:c.535_537del	ENSP00000503062.1:p.Asn179del
ENST00000678548.1:c.*501_*503del	ENSP00000503934.1:n.*501_*503del
ENST00000678626.1:n.389_391del
ENST00000678693.1:n.380_382del
ENST00000678707.1:n.335_337del
ENST00000678739.1:c.*755_*757del	ENSP00000503806.1:n.*755_*757del
ENST00000678833.1:c.*144_*146del	ENSP00000503893.1:n.*144_*146del
ENST00000679023.1:c.535_537del	ENSP00000503718.1:p.Asn179del
ENST00000679076.1:c.408_410del
ENST00000679111.1:c.697_699del	ENSP00000504257.1:p.Asn233del
ENST00000679189.1:c.346_348del	ENSP00000503356.1:p.Asn116del
ENST00000341012.11:c.535_537del	ENSP00000343034.7:p.Asn179del
ENST00000372228.7:c.697_699del	ENSP00000361302.3:p.Asn233del
ENST00000402686.7:c.697_699del	ENSP00000385797.3:p.Asn233del
ENST00000404875.6:c.346_348del	ENSP00000384531.2:p.Asn116del
ENST00000415075.5:c.189-363_189-361del	ENSP00000405149.1:n.189-363_189-361del
ENST00000423007.5:c.697_699del	ENSP00000404119.1:p.Asn233del
ENST00000430619.1:c.346_348del	ENSP00000402083.1:p.Asn116del
ENST00000441334.5:c.346_348del	ENSP00000395060.1:p.Asn116del
ENST00000448212.5:c.535_537del	ENSP00000403736.1:p.Asn179del
ENST00000462375.5:n.255_257del
NM_001077365.1:c.697_699del	NP_001070833.1:p.Asn233del
NM_001077366.1:c.535_537del	NP_001070834.1:p.Asn179del
NM_001136113.1:c.697_699del	NP_001129585.1:p.Asn233del
NM_001136114.1:c.346_348del	NP_001129586.1:p.Asn116del
NM_007171.3:c.697_699del	NP_009102.3:p.Asn233del
XM_005272156.1:c.697_699del	XP_005272213.1:p.Asn233del
XM_005272158.1:c.535_537del	XP_005272215.1:p.Asn179del
XM_005272159.1:c.346_348del	XP_005272216.1:p.Asn116del
XM_005272162.1:c.-703_-701del	XP_005272219.1:n.-703_-701del
XM_006716932.1:c.346_348del	XP_006716995.1:p.Asn116del
XM_011518140.1:c.550_552del	XP_011516442.1:p.Asn184del
XM_011518141.1:c.550_552del	XP_011516443.1:p.Asn184del
XM_011518142.1:c.388_390del	XP_011516444.1:p.Asn130del
XM_011518143.1:c.443_445del	XP_011516445.1:p.Gln148_Cys149delinsArg
XM_011518144.1:c.697_699del	XP_011516446.1:p.Asn233del
XM_011518145.1:c.241_243del	XP_011516447.1:p.Asn81del
XM_011518146.1:c.443_445del	XP_011516448.1:p.Gln148_Cys149delinsArg
XR_929703.1:n.873_875del
NM_001353193.1:c.697_699del	NP_001340122.1:p.Asn233del
NM_001353194.1:c.535_537del	NP_001340123.1:p.Asn179del
NM_001353195.1:c.346_348del	NP_001340124.1:p.Asn116del
NM_001353196.1:c.607_609del	NP_001340125.1:p.Asn203del
NM_001353197.1:c.535_537del	NP_001340126.1:p.Asn179del
NM_001353198.1:c.535_537del	NP_001340127.1:p.Asn179del
NM_001353199.1:c.346_348del	NP_001340128.1:p.Asn116del
NM_001353200.1:c.241_243del	NP_001340129.1:p.Asn81del
NR_148391.1:n.747_749del
NR_148392.1:n.899_901del
NR_148393.1:n.747_749del
NR_148394.1:n.635_637del
NR_148395.1:n.899_901del
NR_148396.1:n.528_530del
NR_148397.1:n.792_794del
NR_148398.1:n.747_749del
NR_148399.1:n.1139_1141del
NR_148400.1:n.733_735del
XM_005272162.3:c.-703_-701del	XP_005272219.1:n.-703_-701del
XM_006716932.2:c.346_348del	XP_006716995.1:p.Asn116del
XM_011518140.2:c.550_552del	XP_011516442.1:p.Asn184del
XM_011518141.2:c.550_552del	XP_011516443.1:p.Asn184del
XM_011518142.2:c.388_390del	XP_011516444.1:p.Asn130del
XM_011518143.2:c.443_445del	XP_011516445.1:p.Gln148_Cys149delinsArg
XM_011518145.2:c.241_243del	XP_011516447.1:p.Asn81del
XM_017014205.2:c.-506_-504del	XP_016869694.1:n.-506_-504del
XM_024447380.1:c.-440_-438del	XP_024303148.1:n.-440_-438del
XM_024447381.1:c.-392_-390del	XP_024303149.1:n.-392_-390del
XM_024447382.1:c.-703_-701del	XP_024303150.1:n.-703_-701del
XR_001746160.2:n.867_869del
XR_001746162.2:n.867_869del
XR_001746164.1:n.645_647del
XR_001746166.2:n.821_823del
NM_001077365.2:c.697_699del MANE Select	NP_001070833.1:p.Asn233del
NM_001077366.2:c.535_537del	NP_001070834.1:p.Asn179del
NM_001136113.2:c.697_699del	NP_001129585.1:p.Asn233del
NM_001136114.2:c.346_348del	NP_001129586.1:p.Asn116del
NM_001353193.2:c.697_699del	NP_001340122.2:p.Asn233del
NM_001353194.2:c.535_537del	NP_001340123.1:p.Asn179del
NM_001353195.2:c.346_348del	NP_001340124.1:p.Asn116del
NM_001353196.2:c.607_609del	NP_001340125.1:p.Asn203del
NM_001353197.2:c.535_537del	NP_001340126.2:p.Asn179del
NM_001353198.2:c.535_537del	NP_001340127.2:p.Asn179del
NM_001353199.2:c.346_348del	NP_001340128.2:p.Asn116del
NM_001353200.2:c.241_243del	NP_001340129.1:p.Asn81del
NM_001374689.1:c.535_537del	NP_001361618.1:p.Asn179del
NM_001374690.1:c.697_699del	NP_001361619.1:p.Asn233del
NM_001374691.1:c.346_348del	NP_001361620.1:p.Asn116del
NM_001374692.1:c.346_348del	NP_001361621.1:p.Asn116del
NM_001374693.1:c.535_537del	NP_001361622.1:p.Asn179del
NM_001374695.1:c.241_243del	NP_001361624.1:p.Asn81del
NM_007171.4:c.697_699del	NP_009102.4:p.Asn233del
NR_148391.2:n.731_733del
NR_148392.2:n.883_885del
NR_148393.2:n.731_733del
NR_148394.2:n.619_621del
NR_148395.2:n.883_885del
NR_148396.2:n.512_514del
NR_148397.2:n.776_778del
NR_148398.2:n.731_733del
NR_148399.2:n.1123_1125del
NR_148400.2:n.717_719del