Canonical Allele Identifier: CA2623417055

Gene: ABCC4

Linked Data

• gnomAD v4: 13-95186831-TGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.95186832_95186833del , CM000675.2:g.95186832_95186833del	GRCh38
NC_000013.10:g.95839086_95839087del , CM000675.1:g.95839086_95839087del	GRCh37
NC_000013.9:g.94637087_94637088del	NCBI36
NG_050651.1:g.119614_119615del
NG_050651.2:g.119614_119615del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642524.1:c.*1446_*1447del	ENSP00000493766.1:n.*1446_*1447del
ENST00000643051.1:c.1413_1414del	ENSP00000495513.1:p.His472TrpfsTer20
ENST00000643556.1:c.1554_1555del	ENSP00000494938.1:n.1554_1555del
ENST00000643816.1:n.1696_1697del
ENST00000643842.1:c.*1459_*1460del	ENSP00000493861.1:n.*1459_*1460del
ENST00000644471.1:n.1509_1510del
ENST00000645237.2:c.1413_1414del MANE Select	ENSP00000494609.1:p.His472TrpfsTer20
ENST00000645532.1:c.1452_1453del	ENSP00000494431.1:p.His485TrpfsTer20
ENST00000646439.1:c.1413_1414del	ENSP00000494751.1:p.His472TrpfsTer20
ENST00000376887.8:c.1413_1414del	ENSP00000366084.4:p.His472TrpfsTer20
ENST00000536256.3:c.1188_1189del	ENSP00000442024.1:p.His397TrpfsTer20
ENST00000629385.1:c.1413_1414del	ENSP00000487081.1:p.His472TrpfsTer20
NM_001105515.2:c.1413_1414del	NP_001098985.1:p.His472TrpfsTer20
NM_001301829.1:c.1413_1414del	NP_001288758.1:p.His472TrpfsTer20
NM_001301830.1:c.1188_1189del	NP_001288759.1:p.His397TrpfsTer20
NM_005845.4:c.1413_1414del	NP_005836.2:p.His472TrpfsTer20
XM_005254025.2:c.1284_1285del	XP_005254082.1:p.His429TrpfsTer20
XM_006719914.1:c.1323_1324del	XP_006719977.1:p.His442TrpfsTer20
XM_011521047.1:c.864_865del	XP_011519349.1:p.His289TrpfsTer20
XM_017020319.1:c.1284_1285del	XP_016875808.1:p.His429TrpfsTer20
XM_017020320.2:c.1413_1414del	XP_016875809.1:p.His472TrpfsTer20
XM_017020322.1:c.1284_1285del	XP_016875811.1:p.His429TrpfsTer20
NM_001105515.3:c.1413_1414del	NP_001098985.1:p.His472TrpfsTer20
NM_001301829.2:c.1413_1414del	NP_001288758.1:p.His472TrpfsTer20
NM_001301830.2:c.1188_1189del	NP_001288759.1:p.His397TrpfsTer20
NM_005845.5:c.1413_1414del MANE Select	NP_005836.2:p.His472TrpfsTer20