Canonical Allele Identifier: CA1181408679

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94021727_94021731delinsTAAAC , CM000663.2:g.94021727_94021731delinsTAAAC	GRCh38
NC_000001.10:g.94487283_94487287delinsTAAAC , CM000663.1:g.94487283_94487287delinsTAAAC	GRCh37
NC_000001.9:g.94259871_94259875delinsTAAAC	NCBI36
NG_009073.1:g.104419_104423delinsGTTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4774-17_4774-13delinsGTTTA MANE Select	ENSP00000359245.3:n.4774-17_4774-13delinsGTTTA
ENST00000370225.3:c.4774-17_4774-13delinsGTTTA	ENSP00000359245.3:n.4774-17_4774-13delinsGTTTA
ENST00000460514.1:n.268-17_268-13delinsGTTTA
ENST00000536513.5:c.1150-17_1150-13delinsGTTTA	ENSP00000439707.2:n.1150-17_1150-13delinsGTTTA
NM_000350.2:c.4774-17_4774-13delinsGTTTA	NP_000341.2:n.4774-17_4774-13delinsGTTTA
NM_000350.3:c.4774-17_4774-13delinsGTTTA MANE Select	NP_000341.2:n.4774-17_4774-13delinsGTTTA