Canonical Allele Identifier: CA2744613975

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94000973del , CM000663.2:g.94000973del	GRCh38
NC_000001.10:g.94466529del , CM000663.1:g.94466529del	GRCh37
NC_000001.9:g.94239117del	NCBI36
NG_009073.1:g.125179del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.6386+31del MANE Select	ENSP00000359245.3:n.6386+31del
ENST00000370225.3:c.6386+31del	ENSP00000359245.3:n.6386+31del
ENST00000536513.5:c.2762+31del	ENSP00000439707.2:n.2762+31del
NM_000350.2:c.6386+31del	NP_000341.2:n.6386+31del
NM_000350.3:c.6386+31del MANE Select	NP_000341.2:n.6386+31del