Canonical Allele Identifier: CA1181422697

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94047186_94047187delinsCG , CM000663.2:g.94047186_94047187delinsCG	GRCh38
NC_000001.10:g.94512742_94512743delinsCG , CM000663.1:g.94512742_94512743delinsCG	GRCh37
NC_000001.9:g.94285330_94285331delinsCG	NCBI36
NG_009073.1:g.78963_78964delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2744-94_2744-93delinsCG MANE Select	ENSP00000359245.3:n.2744-94_2744-93delinsCG
ENST00000649773.1:c.2522-94_2522-93delinsCG	ENSP00000496882.1:n.2522-94_2522-93delinsCG
ENST00000370225.3:c.2744-94_2744-93delinsCG	ENSP00000359245.3:n.2744-94_2744-93delinsCG
ENST00000536513.5:c.-64-7098_-64-7097delinsCG	ENSP00000439707.2:n.-64-7098_-64-7097delinsCG
NM_000350.2:c.2744-94_2744-93delinsCG	NP_000341.2:n.2744-94_2744-93delinsCG
NM_000350.3:c.2744-94_2744-93delinsCG MANE Select	NP_000341.2:n.2744-94_2744-93delinsCG