Canonical Allele Identifier: CA2575467489

Gene: ABCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.95170596del , CM000675.2:g.95170596del	GRCh38
NC_000013.10:g.95822850del , CM000675.1:g.95822850del	GRCh37
NC_000013.9:g.94620851del	NCBI36
NG_050651.1:g.135851del
NG_050651.2:g.135851del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642524.1:c.*1793del	ENSP00000493766.1:n.*1793del
ENST00000643051.1:c.1760del	ENSP00000495513.1:p.Thr587LysfsTer3
ENST00000643556.1:c.1901del	ENSP00000494938.1:n.1901del
ENST00000643816.1:n.2043del
ENST00000643842.1:c.*1806del	ENSP00000493861.1:n.*1806del
ENST00000644471.1:n.1851del
ENST00000645237.2:c.1760del MANE Select	ENSP00000494609.1:p.Thr587LysfsTer3
ENST00000645532.1:c.1799del	ENSP00000494431.1:p.Thr600LysfsTer3
ENST00000646439.1:c.1760del	ENSP00000494751.1:p.Thr587LysfsTer3
ENST00000376887.8:c.1760del	ENSP00000366084.4:p.Thr587LysfsTer3
ENST00000536256.3:c.1535del	ENSP00000442024.1:p.Thr512LysfsTer3
ENST00000629385.1:c.1760del	ENSP00000487081.1:p.Thr587LysfsTer3
NM_001105515.2:c.1760del	NP_001098985.1:p.Thr587LysfsTer3
NM_001301829.1:c.1760del	NP_001288758.1:p.Thr587LysfsTer3
NM_001301830.1:c.1535del	NP_001288759.1:p.Thr512LysfsTer3
NM_005845.4:c.1760del	NP_005836.2:p.Thr587LysfsTer3
XM_005254025.2:c.1631del	XP_005254082.1:p.Thr544LysfsTer3
XM_006719914.1:c.1670del	XP_006719977.1:p.Thr557LysfsTer3
XM_011521047.1:c.1211del	XP_011519349.1:p.Thr404LysfsTer3
XM_017020319.1:c.1631del	XP_016875808.1:p.Thr544LysfsTer3
XM_017020320.2:c.1760del	XP_016875809.1:p.Thr587LysfsTer3
XM_017020321.1:c.245del	XP_016875810.1:p.Thr82LysfsTer3
XM_017020322.1:c.1631del	XP_016875811.1:p.Thr544LysfsTer3
NM_001105515.3:c.1760del	NP_001098985.1:p.Thr587LysfsTer3
NM_001301829.2:c.1760del	NP_001288758.1:p.Thr587LysfsTer3
NM_001301830.2:c.1535del	NP_001288759.1:p.Thr512LysfsTer3
NM_005845.5:c.1760del MANE Select	NP_005836.2:p.Thr587LysfsTer3