Canonical Allele Identifier: CA2549132878

Gene: ABCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.95170547_95170548insGCTGGG , CM000675.2:g.95170547_95170548insGCTGGG	GRCh38
NC_000013.10:g.95822801_95822802insGCTGGG , CM000675.1:g.95822801_95822802insGCTGGG	GRCh37
NC_000013.9:g.94620802_94620803insGCTGGG	NCBI36
NG_050651.1:g.135899_135900insCCCAGC
NG_050651.2:g.135899_135900insCCCAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642524.1:c.*1841_*1842insCCCAGC	ENSP00000493766.1:n.*1841_*1842insCCCAGC
ENST00000643051.1:c.1808_1809insCCCAGC	ENSP00000495513.1:p.Ile603_Leu604insProAla
ENST00000643556.1:c.1949_1950insCCCAGC	ENSP00000494938.1:n.1949_1950insCCCAGC
ENST00000643816.1:n.2091_2092insCCCAGC
ENST00000643842.1:c.*1854_*1855insCCCAGC	ENSP00000493861.1:n.*1854_*1855insCCCAGC
ENST00000644471.1:n.1899_1900insCCCAGC
ENST00000645237.2:c.1808_1809insCCCAGC MANE Select	ENSP00000494609.1:p.Ile603_Leu604insProAla
ENST00000645532.1:c.1847_1848insCCCAGC	ENSP00000494431.1:p.Ile616_Leu617insProAla
ENST00000646439.1:c.1808_1809insCCCAGC	ENSP00000494751.1:p.Ile603_Leu604insProAla
ENST00000376887.8:c.1808_1809insCCCAGC	ENSP00000366084.4:p.Ile603_Leu604insProAla
ENST00000536256.3:c.1583_1584insCCCAGC	ENSP00000442024.1:p.Ile528_Leu529insProAla
ENST00000629385.1:c.1808_1809insCCCAGC	ENSP00000487081.1:p.Ile603_Leu604insProAla
NM_001105515.2:c.1808_1809insCCCAGC	NP_001098985.1:p.Ile603_Leu604insProAla
NM_001301829.1:c.1808_1809insCCCAGC	NP_001288758.1:p.Ile603_Leu604insProAla
NM_001301830.1:c.1583_1584insCCCAGC	NP_001288759.1:p.Ile528_Leu529insProAla
NM_005845.4:c.1808_1809insCCCAGC	NP_005836.2:p.Ile603_Leu604insProAla
XM_005254025.2:c.1679_1680insCCCAGC	XP_005254082.1:p.Ile560_Leu561insProAla
XM_006719914.1:c.1718_1719insCCCAGC	XP_006719977.1:p.Ile573_Leu574insProAla
XM_011521047.1:c.1259_1260insCCCAGC	XP_011519349.1:p.Ile420_Leu421insProAla
XM_017020319.1:c.1679_1680insCCCAGC	XP_016875808.1:p.Ile560_Leu561insProAla
XM_017020320.2:c.1808_1809insCCCAGC	XP_016875809.1:p.Ile603_Leu604insProAla
XM_017020321.1:c.293_294insCCCAGC	XP_016875810.1:p.Ile98_Leu99insProAla
XM_017020322.1:c.1679_1680insCCCAGC	XP_016875811.1:p.Ile560_Leu561insProAla
NM_001105515.3:c.1808_1809insCCCAGC	NP_001098985.1:p.Ile603_Leu604insProAla
NM_001301829.2:c.1808_1809insCCCAGC	NP_001288758.1:p.Ile603_Leu604insProAla
NM_001301830.2:c.1583_1584insCCCAGC	NP_001288759.1:p.Ile528_Leu529insProAla
NM_005845.5:c.1808_1809insCCCAGC MANE Select	NP_005836.2:p.Ile603_Leu604insProAla