Canonical Allele Identifier: CA2623415865

Gene: ABCC4

Linked Data

• gnomAD v4: 13-95170577-C-CTGA

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.95170581_95170583dup , CM000675.2:g.95170581_95170583dup	GRCh38
NC_000013.10:g.95822835_95822837dup , CM000675.1:g.95822835_95822837dup	GRCh37
NC_000013.9:g.94620836_94620838dup	NCBI36
NG_050651.1:g.135867_135869dup
NG_050651.2:g.135867_135869dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642524.1:c.*1809_*1811dup	ENSP00000493766.1:n.*1809_*1811dup
ENST00000643051.1:c.1776_1778dup	ENSP00000495513.1:p.His592_Gln593insHis
ENST00000643556.1:c.1917_1919dup	ENSP00000494938.1:n.1917_1919dup
ENST00000643816.1:n.2059_2061dup
ENST00000643842.1:c.*1822_*1824dup	ENSP00000493861.1:n.*1822_*1824dup
ENST00000644471.1:n.1867_1869dup
ENST00000645237.2:c.1776_1778dup MANE Select	ENSP00000494609.1:p.His592_Gln593insHis
ENST00000645532.1:c.1815_1817dup	ENSP00000494431.1:p.His605_Gln606insHis
ENST00000646439.1:c.1776_1778dup	ENSP00000494751.1:p.His592_Gln593insHis
ENST00000376887.8:c.1776_1778dup	ENSP00000366084.4:p.His592_Gln593insHis
ENST00000536256.3:c.1551_1553dup	ENSP00000442024.1:p.His517_Gln518insHis
ENST00000629385.1:c.1776_1778dup	ENSP00000487081.1:p.His592_Gln593insHis
NM_001105515.2:c.1776_1778dup	NP_001098985.1:p.His592_Gln593insHis
NM_001301829.1:c.1776_1778dup	NP_001288758.1:p.His592_Gln593insHis
NM_001301830.1:c.1551_1553dup	NP_001288759.1:p.His517_Gln518insHis
NM_005845.4:c.1776_1778dup	NP_005836.2:p.His592_Gln593insHis
XM_005254025.2:c.1647_1649dup	XP_005254082.1:p.His549_Gln550insHis
XM_006719914.1:c.1686_1688dup	XP_006719977.1:p.His562_Gln563insHis
XM_011521047.1:c.1227_1229dup	XP_011519349.1:p.His409_Gln410insHis
XM_017020319.1:c.1647_1649dup	XP_016875808.1:p.His549_Gln550insHis
XM_017020320.2:c.1776_1778dup	XP_016875809.1:p.His592_Gln593insHis
XM_017020321.1:c.261_263dup	XP_016875810.1:p.His87_Gln88insHis
XM_017020322.1:c.1647_1649dup	XP_016875811.1:p.His549_Gln550insHis
NM_001105515.3:c.1776_1778dup	NP_001098985.1:p.His592_Gln593insHis
NM_001301829.2:c.1776_1778dup	NP_001288758.1:p.His592_Gln593insHis
NM_001301830.2:c.1551_1553dup	NP_001288759.1:p.His517_Gln518insHis
NM_005845.5:c.1776_1778dup MANE Select	NP_005836.2:p.His592_Gln593insHis