Canonical Allele Identifier: CA2646649383

Gene: ABCA4

Linked Data

• gnomAD v4: 1-94030672-A-AGGACCCGACG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94030673_94030674insGACCCGACGG , CM000663.2:g.94030673_94030674insGACCCGACGG	GRCh38
NC_000001.10:g.94496229_94496230insGACCCGACGG , CM000663.1:g.94496229_94496230insGACCCGACGG	GRCh37
NC_000001.9:g.94268817_94268818insGACCCGACGG	NCBI36
NG_009073.1:g.95477_95478insCGTCGGGTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4254-147_4254-146insCGTCGGGTCC MANE Select	ENSP00000359245.3:n.4254-147_4254-146insCGTCGGGTCC
ENST00000370225.3:c.4254-147_4254-146insCGTCGGGTCC	ENSP00000359245.3:n.4254-147_4254-146insCGTCGGGTCC
ENST00000536513.5:c.630-147_630-146insCGTCGGGTCC	ENSP00000439707.2:n.630-147_630-146insCGTCGGGTCC
NM_000350.2:c.4254-147_4254-146insCGTCGGGTCC	NP_000341.2:n.4254-147_4254-146insCGTCGGGTCC
NM_000350.3:c.4254-147_4254-146insCGTCGGGTCC MANE Select	NP_000341.2:n.4254-147_4254-146insCGTCGGGTCC