Canonical Allele Identifier: CA1181408693

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94021729_94021731delinsAAC , CM000663.2:g.94021729_94021731delinsAAC	GRCh38
NC_000001.10:g.94487285_94487287delinsAAC , CM000663.1:g.94487285_94487287delinsAAC	GRCh37
NC_000001.9:g.94259873_94259875delinsAAC	NCBI36
NG_009073.1:g.104419_104421delinsGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4774-17_4774-15delinsGTT MANE Select	ENSP00000359245.3:n.4774-17_4774-15delinsGTT
ENST00000370225.3:c.4774-17_4774-15delinsGTT	ENSP00000359245.3:n.4774-17_4774-15delinsGTT
ENST00000460514.1:n.268-17_268-15delinsGTT
ENST00000536513.5:c.1150-17_1150-15delinsGTT	ENSP00000439707.2:n.1150-17_1150-15delinsGTT
NM_000350.2:c.4774-17_4774-15delinsGTT	NP_000341.2:n.4774-17_4774-15delinsGTT
NM_000350.3:c.4774-17_4774-15delinsGTT MANE Select	NP_000341.2:n.4774-17_4774-15delinsGTT