Canonical Allele Identifier: CA1181420116

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94041513_94041515delinsTAA , CM000663.2:g.94041513_94041515delinsTAA	GRCh38
NC_000001.10:g.94507069_94507071delinsTAA , CM000663.1:g.94507069_94507071delinsTAA	GRCh37
NC_000001.9:g.94279657_94279659delinsTAA	NCBI36
NG_009073.1:g.84635_84637delinsTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.3329-113_3329-111delinsTTA MANE Select	ENSP00000359245.3:n.3329-113_3329-111delinsTTA
ENST00000370225.3:c.3329-113_3329-111delinsTTA	ENSP00000359245.3:n.3329-113_3329-111delinsTTA
ENST00000536513.5:c.-64-1426_-64-1424delinsTTA	ENSP00000439707.2:n.-64-1426_-64-1424delinsTTA
NM_000350.2:c.3329-113_3329-111delinsTTA	NP_000341.2:n.3329-113_3329-111delinsTTA
NM_000350.3:c.3329-113_3329-111delinsTTA MANE Select	NP_000341.2:n.3329-113_3329-111delinsTTA