Canonical Allele Identifier: CA2744616539

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94030591_94030592insACAA , CM000663.2:g.94030591_94030592insACAA	GRCh38
NC_000001.10:g.94496147_94496148insACAA , CM000663.1:g.94496147_94496148insACAA	GRCh37
NC_000001.9:g.94268735_94268736insACAA	NCBI36
NG_009073.1:g.95558_95559insTTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4254-66_4254-65insTTGT MANE Select	ENSP00000359245.3:n.4254-66_4254-65insTTGT
ENST00000370225.3:c.4254-66_4254-65insTTGT	ENSP00000359245.3:n.4254-66_4254-65insTTGT
ENST00000536513.5:c.630-66_630-65insTTGT	ENSP00000439707.2:n.630-66_630-65insTTGT
NM_000350.2:c.4254-66_4254-65insTTGT	NP_000341.2:n.4254-66_4254-65insTTGT
NM_000350.3:c.4254-66_4254-65insTTGT MANE Select	NP_000341.2:n.4254-66_4254-65insTTGT