Canonical Allele Identifier: CA645519093

Gene: ABCA4

Linked Data

• COSMIC: COSM4518728

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94021714_94021715delinsTT , CM000663.2:g.94021714_94021715delinsTT	GRCh38
NC_000001.10:g.94487270_94487271delinsTT , CM000663.1:g.94487270_94487271delinsTT	GRCh37
NC_000001.9:g.94259858_94259859delinsTT	NCBI36
NG_009073.1:g.104435_104436delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4774-1_4774delinsAA
ENST00000370225.3:c.4774-1_4774delinsAA
ENST00000460514.1:n.268-1_268delinsAA
ENST00000536513.5:c.1150-1_1150delinsAA
NM_000350.2:c.4774-1_4774delinsAA
NM_000350.3:c.4774-1_4774delinsAA