Canonical Allele Identifier: CA611887486

Gene: ABCC4

Linked Data

• dbSNP Id: rs1375949250
• gnomAD v2: 13-95839071-AG-A
• gnomAD v4: 13-95186817-AG-A
• MyVariant Identifiers: chr13:g.95839072del (hg19) ; chr13:g.95186818del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.95186819del , CM000675.2:g.95186819del	GRCh38
NC_000013.10:g.95839073del , CM000675.1:g.95839073del	GRCh37
NC_000013.9:g.94637074del	NCBI36
NG_050651.1:g.119629del
NG_050651.2:g.119629del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642524.1:c.*1461del	ENSP00000493766.1:n.*1461del
ENST00000643051.1:c.1428del	ENSP00000495513.1:p.Tyr477MetfsTer13
ENST00000643556.1:c.1569del	ENSP00000494938.1:n.1569del
ENST00000643816.1:n.1711del
ENST00000643842.1:c.*1474del	ENSP00000493861.1:n.*1474del
ENST00000644471.1:n.1524del
ENST00000645237.2:c.1428del MANE Select	ENSP00000494609.1:p.Tyr477MetfsTer13
ENST00000645532.1:c.1467del	ENSP00000494431.1:p.Tyr490MetfsTer13
ENST00000646439.1:c.1428del	ENSP00000494751.1:p.Tyr477MetfsTer13
ENST00000376887.8:c.1428del	ENSP00000366084.4:p.Tyr477MetfsTer13
ENST00000536256.3:c.1203del	ENSP00000442024.1:p.Tyr402MetfsTer13
ENST00000629385.1:c.1428del	ENSP00000487081.1:p.Tyr477MetfsTer13
NM_001105515.2:c.1428del	NP_001098985.1:p.Tyr477MetfsTer13
NM_001301829.1:c.1428del	NP_001288758.1:p.Tyr477MetfsTer13
NM_001301830.1:c.1203del	NP_001288759.1:p.Tyr402MetfsTer13
NM_005845.4:c.1428del	NP_005836.2:p.Tyr477MetfsTer13
XM_005254025.2:c.1299del	XP_005254082.1:p.Tyr434MetfsTer13
XM_006719914.1:c.1338del	XP_006719977.1:p.Tyr447MetfsTer13
XM_011521047.1:c.879del	XP_011519349.1:p.Tyr294MetfsTer13
XM_017020319.1:c.1299del	XP_016875808.1:p.Tyr434MetfsTer13
XM_017020320.2:c.1428del	XP_016875809.1:p.Tyr477MetfsTer13
XM_017020322.1:c.1299del	XP_016875811.1:p.Tyr434MetfsTer13
NM_001105515.3:c.1428del	NP_001098985.1:p.Tyr477MetfsTer13
NM_001301829.2:c.1428del	NP_001288758.1:p.Tyr477MetfsTer13
NM_001301830.2:c.1203del	NP_001288759.1:p.Tyr402MetfsTer13
NM_005845.5:c.1428del MANE Select	NP_005836.2:p.Tyr477MetfsTer13