Canonical Allele Identifier: CA2623415883

Gene: ABCC4

Linked Data

• gnomAD v4: 13-95170599-ATCT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.95170603_95170605del , CM000675.2:g.95170603_95170605del	GRCh38
NC_000013.10:g.95822857_95822859del , CM000675.1:g.95822857_95822859del	GRCh37
NC_000013.9:g.94620858_94620860del	NCBI36
NG_050651.1:g.135845_135847del
NG_050651.2:g.135845_135847del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642524.1:c.*1787_*1789del	ENSP00000493766.1:n.*1787_*1789del
ENST00000643051.1:c.1754_1756del	ENSP00000495513.1:p.Lys585del
ENST00000643556.1:c.1895_1897del	ENSP00000494938.1:n.1895_1897del
ENST00000643816.1:n.2037_2039del
ENST00000643842.1:c.*1800_*1802del	ENSP00000493861.1:n.*1800_*1802del
ENST00000644471.1:n.1845_1847del
ENST00000645237.2:c.1754_1756del MANE Select	ENSP00000494609.1:p.Lys585del
ENST00000645532.1:c.1793_1795del	ENSP00000494431.1:p.Lys598del
ENST00000646439.1:c.1754_1756del	ENSP00000494751.1:p.Lys585del
ENST00000376887.8:c.1754_1756del	ENSP00000366084.4:p.Lys585del
ENST00000536256.3:c.1529_1531del	ENSP00000442024.1:p.Lys510del
ENST00000629385.1:c.1754_1756del	ENSP00000487081.1:p.Lys585del
NM_001105515.2:c.1754_1756del	NP_001098985.1:p.Lys585del
NM_001301829.1:c.1754_1756del	NP_001288758.1:p.Lys585del
NM_001301830.1:c.1529_1531del	NP_001288759.1:p.Lys510del
NM_005845.4:c.1754_1756del	NP_005836.2:p.Lys585del
XM_005254025.2:c.1625_1627del	XP_005254082.1:p.Lys542del
XM_006719914.1:c.1664_1666del	XP_006719977.1:p.Lys555del
XM_011521047.1:c.1205_1207del	XP_011519349.1:p.Lys402del
XM_017020319.1:c.1625_1627del	XP_016875808.1:p.Lys542del
XM_017020320.2:c.1754_1756del	XP_016875809.1:p.Lys585del
XM_017020321.1:c.239_241del	XP_016875810.1:p.Lys80del
XM_017020322.1:c.1625_1627del	XP_016875811.1:p.Lys542del
NM_001105515.3:c.1754_1756del	NP_001098985.1:p.Lys585del
NM_001301829.2:c.1754_1756del	NP_001288758.1:p.Lys585del
NM_001301830.2:c.1529_1531del	NP_001288759.1:p.Lys510del
NM_005845.5:c.1754_1756del MANE Select	NP_005836.2:p.Lys585del