Canonical Allele Identifier: CA2744616631

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94030686_94030687del , CM000663.2:g.94030686_94030687del	GRCh38
NC_000001.10:g.94496242_94496243del , CM000663.1:g.94496242_94496243del	GRCh37
NC_000001.9:g.94268830_94268831del	NCBI36
NG_009073.1:g.95463_95464del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4254-161_4254-160del MANE Select	ENSP00000359245.3:n.4254-161_4254-160del
ENST00000370225.3:c.4254-161_4254-160del	ENSP00000359245.3:n.4254-161_4254-160del
ENST00000536513.5:c.630-161_630-160del	ENSP00000439707.2:n.630-161_630-160del
NM_000350.2:c.4254-161_4254-160del	NP_000341.2:n.4254-161_4254-160del
NM_000350.3:c.4254-161_4254-160del MANE Select	NP_000341.2:n.4254-161_4254-160del