Canonical Allele Identifier: CA2744618348

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94047170_94047171insACAG , CM000663.2:g.94047170_94047171insACAG	GRCh38
NC_000001.10:g.94512726_94512727insACAG , CM000663.1:g.94512726_94512727insACAG	GRCh37
NC_000001.9:g.94285314_94285315insACAG	NCBI36
NG_009073.1:g.78979_78980insCTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2744-78_2744-77insCTGT MANE Select	ENSP00000359245.3:n.2744-78_2744-77insCTGT
ENST00000649773.1:c.2522-78_2522-77insCTGT	ENSP00000496882.1:n.2522-78_2522-77insCTGT
ENST00000370225.3:c.2744-78_2744-77insCTGT	ENSP00000359245.3:n.2744-78_2744-77insCTGT
ENST00000536513.5:c.-64-7082_-64-7081insCTGT	ENSP00000439707.2:n.-64-7082_-64-7081insCTGT
NM_000350.2:c.2744-78_2744-77insCTGT	NP_000341.2:n.2744-78_2744-77insCTGT
NM_000350.3:c.2744-78_2744-77insCTGT MANE Select	NP_000341.2:n.2744-78_2744-77insCTGT