Canonical Allele Identifier: CA2744619315

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94062848_94063010del , CM000663.2:g.94062848_94063010del	GRCh38
NC_000001.10:g.94528404_94528566del , CM000663.1:g.94528404_94528566del	GRCh37
NC_000001.9:g.94300992_94301154del	NCBI36
NG_009073.1:g.63145_63307del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1760+107_1761-90del MANE Select	ENSP00000359245.3:n.1760+107_1761-90del
ENST00000649773.1:c.1760+107_1761-90del	ENSP00000496882.1:n.1760+107_1761-90del
ENST00000370225.3:c.1760+107_1761-90del	ENSP00000359245.3:n.1760+107_1761-90del
ENST00000536513.5:c.-65+169_-65+331del	ENSP00000439707.2:n.-65+169_-65+331del
NM_000350.2:c.1760+107_1761-90del	NP_000341.2:n.1760+107_1761-90del
NM_000350.3:c.1760+107_1761-90del MANE Select	NP_000341.2:n.1760+107_1761-90del