Canonical Allele Identifier: CA2744616618

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94030680dup , CM000663.2:g.94030680dup	GRCh38
NC_000001.10:g.94496236dup , CM000663.1:g.94496236dup	GRCh37
NC_000001.9:g.94268824dup	NCBI36
NG_009073.1:g.95470dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4254-154dup MANE Select	ENSP00000359245.3:n.4254-154dup
ENST00000370225.3:c.4254-154dup	ENSP00000359245.3:n.4254-154dup
ENST00000536513.5:c.630-154dup	ENSP00000439707.2:n.630-154dup
NM_000350.2:c.4254-154dup	NP_000341.2:n.4254-154dup
NM_000350.3:c.4254-154dup MANE Select	NP_000341.2:n.4254-154dup