Canonical Allele Identifier: CA2744616610

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94030673_94030690del , CM000663.2:g.94030673_94030690del	GRCh38
NC_000001.10:g.94496229_94496246del , CM000663.1:g.94496229_94496246del	GRCh37
NC_000001.9:g.94268817_94268834del	NCBI36
NG_009073.1:g.95462_95479del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4254-162_4254-145del MANE Select	ENSP00000359245.3:n.4254-162_4254-145del
ENST00000370225.3:c.4254-162_4254-145del	ENSP00000359245.3:n.4254-162_4254-145del
ENST00000536513.5:c.630-162_630-145del	ENSP00000439707.2:n.630-162_630-145del
NM_000350.2:c.4254-162_4254-145del	NP_000341.2:n.4254-162_4254-145del
NM_000350.3:c.4254-162_4254-145del MANE Select	NP_000341.2:n.4254-162_4254-145del