Canonical Allele Identifier: CA2623417056

Gene: ABCC4

Linked Data

• gnomAD v4: 13-95186864-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.95186868dup , CM000675.2:g.95186868dup	GRCh38
NC_000013.10:g.95839122dup , CM000675.1:g.95839122dup	GRCh37
NC_000013.9:g.94637123dup	NCBI36
NG_050651.1:g.119582dup
NG_050651.2:g.119582dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642524.1:c.*1414dup	ENSP00000493766.1:n.*1414dup
ENST00000643051.1:c.1381dup	ENSP00000495513.1:p.Glu461GlyfsTer?
ENST00000643556.1:c.1522dup	ENSP00000494938.1:n.1522dup
ENST00000643816.1:n.1664dup
ENST00000643842.1:c.*1427dup	ENSP00000493861.1:n.*1427dup
ENST00000644471.1:n.1477dup
ENST00000645237.2:c.1381dup MANE Select	ENSP00000494609.1:p.Glu461GlyfsTer?
ENST00000645532.1:c.1420dup	ENSP00000494431.1:p.Glu474GlyfsTer?
ENST00000646439.1:c.1381dup	ENSP00000494751.1:p.Glu461GlyfsTer?
ENST00000376887.8:c.1381dup	ENSP00000366084.4:p.Glu461GlyfsTer?
ENST00000536256.3:c.1156dup	ENSP00000442024.1:p.Glu386GlyfsTer?
ENST00000629385.1:c.1381dup	ENSP00000487081.1:p.Glu461GlyfsTer?
NM_001105515.2:c.1381dup	NP_001098985.1:p.Glu461GlyfsTer?
NM_001301829.1:c.1381dup	NP_001288758.1:p.Glu461GlyfsTer?
NM_001301830.1:c.1156dup	NP_001288759.1:p.Glu386GlyfsTer?
NM_005845.4:c.1381dup	NP_005836.2:p.Glu461GlyfsTer?
XM_005254025.2:c.1252dup	XP_005254082.1:p.Glu418GlyfsTer?
XM_006719914.1:c.1291dup	XP_006719977.1:p.Glu431GlyfsTer?
XM_011521047.1:c.832dup	XP_011519349.1:p.Glu278GlyfsTer?
XM_017020319.1:c.1252dup	XP_016875808.1:p.Glu418GlyfsTer?
XM_017020320.2:c.1381dup	XP_016875809.1:p.Glu461GlyfsTer?
XM_017020322.1:c.1252dup	XP_016875811.1:p.Glu418GlyfsTer?
NM_001105515.3:c.1381dup	NP_001098985.1:p.Glu461GlyfsTer?
NM_001301829.2:c.1381dup	NP_001288758.1:p.Glu461GlyfsTer?
NM_001301830.2:c.1156dup	NP_001288759.1:p.Glu386GlyfsTer?
NM_005845.5:c.1381dup MANE Select	NP_005836.2:p.Glu461GlyfsTer?