Canonical Allele Identifier: CA2744616617

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94030677_94030679del , CM000663.2:g.94030677_94030679del	GRCh38
NC_000001.10:g.94496233_94496235del , CM000663.1:g.94496233_94496235del	GRCh37
NC_000001.9:g.94268821_94268823del	NCBI36
NG_009073.1:g.95471_95473del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4254-153_4254-151del MANE Select	ENSP00000359245.3:n.4254-153_4254-151del
ENST00000370225.3:c.4254-153_4254-151del	ENSP00000359245.3:n.4254-153_4254-151del
ENST00000536513.5:c.630-153_630-151del	ENSP00000439707.2:n.630-153_630-151del
NM_000350.2:c.4254-153_4254-151del	NP_000341.2:n.4254-153_4254-151del
NM_000350.3:c.4254-153_4254-151del MANE Select	NP_000341.2:n.4254-153_4254-151del