Canonical Allele Identifier: CA611887485

Gene: ABCC4

Linked Data

• dbSNP Id: rs1420551644
• gnomAD v2: 13-95838965-G-GC
• gnomAD v4: 13-95186711-G-GC
• MyVariant Identifiers: chr13:g.95838965_95838966insC (hg19) ; chr13:g.95186711_95186712insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.95186712dup , CM000675.2:g.95186712dup	GRCh38
NC_000013.10:g.95838966dup , CM000675.1:g.95838966dup	GRCh37
NC_000013.9:g.94636967dup	NCBI36
NG_050651.1:g.119735dup
NG_050651.2:g.119735dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642524.1:c.*1567dup	ENSP00000493766.1:n.*1567dup
ENST00000643051.1:c.1534dup	ENSP00000495513.1:p.Ala512GlyfsTer13
ENST00000643556.1:c.1675dup	ENSP00000494938.1:n.1675dup
ENST00000643816.1:n.1817dup
ENST00000643842.1:c.*1580dup	ENSP00000493861.1:n.*1580dup
ENST00000644471.1:n.1630dup
ENST00000645237.2:c.1534dup MANE Select	ENSP00000494609.1:p.Ala512GlyfsTer13
ENST00000645532.1:c.1573dup	ENSP00000494431.1:p.Ala525GlyfsTer13
ENST00000646439.1:c.1534dup	ENSP00000494751.1:p.Ala512GlyfsTer13
ENST00000376887.8:c.1534dup	ENSP00000366084.4:p.Ala512GlyfsTer13
ENST00000536256.3:c.1309dup	ENSP00000442024.1:p.Ala437GlyfsTer13
ENST00000629385.1:c.1534dup	ENSP00000487081.1:p.Ala512GlyfsTer13
NM_001105515.2:c.1534dup	NP_001098985.1:p.Ala512GlyfsTer13
NM_001301829.1:c.1534dup	NP_001288758.1:p.Ala512GlyfsTer13
NM_001301830.1:c.1309dup	NP_001288759.1:p.Ala437GlyfsTer13
NM_005845.4:c.1534dup	NP_005836.2:p.Ala512GlyfsTer13
XM_005254025.2:c.1405dup	XP_005254082.1:p.Ala469GlyfsTer13
XM_006719914.1:c.1444dup	XP_006719977.1:p.Ala482GlyfsTer13
XM_011521047.1:c.985dup	XP_011519349.1:p.Ala329GlyfsTer13
XM_017020319.1:c.1405dup	XP_016875808.1:p.Ala469GlyfsTer13
XM_017020320.2:c.1534dup	XP_016875809.1:p.Ala512GlyfsTer13
XM_017020322.1:c.1405dup	XP_016875811.1:p.Ala469GlyfsTer13
NM_001105515.3:c.1534dup	NP_001098985.1:p.Ala512GlyfsTer13
NM_001301829.2:c.1534dup	NP_001288758.1:p.Ala512GlyfsTer13
NM_001301830.2:c.1309dup	NP_001288759.1:p.Ala437GlyfsTer13
NM_005845.5:c.1534dup MANE Select	NP_005836.2:p.Ala512GlyfsTer13