Canonical Allele Identifier: CA2744619338

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94062867_94062871del , CM000663.2:g.94062867_94062871del	GRCh38
NC_000001.10:g.94528423_94528427del , CM000663.1:g.94528423_94528427del	GRCh37
NC_000001.9:g.94301011_94301015del	NCBI36
NG_009073.1:g.63279_63283del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1761-118_1761-114del MANE Select	ENSP00000359245.3:n.1761-118_1761-114del
ENST00000649773.1:c.1761-118_1761-114del	ENSP00000496882.1:n.1761-118_1761-114del
ENST00000370225.3:c.1761-118_1761-114del	ENSP00000359245.3:n.1761-118_1761-114del
ENST00000536513.5:c.-65+303_-65+307del	ENSP00000439707.2:n.-65+303_-65+307del
NM_000350.2:c.1761-118_1761-114del	NP_000341.2:n.1761-118_1761-114del
NM_000350.3:c.1761-118_1761-114del MANE Select	NP_000341.2:n.1761-118_1761-114del