Canonical Allele Identifier: CA2272580166

Gene: ABCA5

Linked Data

• dbSNP Id: rs2075042461

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.69253664_69253665insGTTT , CM000679.2:g.69253664_69253665insGTTT	GRCh38
NC_000017.10:g.67249805_67249806insGTTT , CM000679.1:g.67249805_67249806insGTTT	GRCh37
NC_000017.9:g.64761400_64761401insGTTT	NCBI36
NG_034199.1:g.78518_78519insAAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392676.8:c.4323_4324insAAAC MANE Select	ENSP00000376443.2:p.Cys1442LysfsTer18
ENST00000392676.7:c.4323_4324insAAAC	ENSP00000376443.2:p.Cys1442LysfsTer18
ENST00000586811.1:c.1221_1222insAAAC	ENSP00000465351.1:p.Cys408LysfsTer18
ENST00000586995.5:c.3385_3386insAAAC	ENSP00000467251.1:n.3385_3386insAAAC
ENST00000588877.5:c.4323_4324insAAAC	ENSP00000467882.1:p.Cys1442LysfsTer18
ENST00000591234.5:c.2265_2266insAAAC	ENSP00000465766.1:n.2265_2266insAAAC
NM_018672.4:c.4323_4324insAAAC	NP_061142.2:p.Cys1442LysfsTer18
NM_172232.3:c.4323_4324insAAAC	NP_758424.1:p.Cys1442LysfsTer18
NM_172232.4:c.4323_4324insAAAC MANE Select	NP_758424.1:p.Cys1442LysfsTer18
NM_018672.5:c.4323_4324insAAAC	NP_061142.2:p.Cys1442LysfsTer18