Canonical Allele Identifier: CA2744616611

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94030671_94030672insTC , CM000663.2:g.94030671_94030672insTC	GRCh38
NC_000001.10:g.94496227_94496228insTC , CM000663.1:g.94496227_94496228insTC	GRCh37
NC_000001.9:g.94268815_94268816insTC	NCBI36
NG_009073.1:g.95478_95479insGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4254-146_4254-145insGA MANE Select	ENSP00000359245.3:n.4254-146_4254-145insGA
ENST00000370225.3:c.4254-146_4254-145insGA	ENSP00000359245.3:n.4254-146_4254-145insGA
ENST00000536513.5:c.630-146_630-145insGA	ENSP00000439707.2:n.630-146_630-145insGA
NM_000350.2:c.4254-146_4254-145insGA	NP_000341.2:n.4254-146_4254-145insGA
NM_000350.3:c.4254-146_4254-145insGA MANE Select	NP_000341.2:n.4254-146_4254-145insGA