Canonical Allele Identifier: CA2744618378

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94047208_94047209insACA , CM000663.2:g.94047208_94047209insACA	GRCh38
NC_000001.10:g.94512764_94512765insACA , CM000663.1:g.94512764_94512765insACA	GRCh37
NC_000001.9:g.94285352_94285353insACA	NCBI36
NG_009073.1:g.78941_78942insTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2744-116_2744-115insTGT MANE Select	ENSP00000359245.3:n.2744-116_2744-115insTGT
ENST00000649773.1:c.2522-116_2522-115insTGT	ENSP00000496882.1:n.2522-116_2522-115insTGT
ENST00000370225.3:c.2744-116_2744-115insTGT	ENSP00000359245.3:n.2744-116_2744-115insTGT
ENST00000536513.5:c.-64-7120_-64-7119insTGT	ENSP00000439707.2:n.-64-7120_-64-7119insTGT
NM_000350.2:c.2744-116_2744-115insTGT	NP_000341.2:n.2744-116_2744-115insTGT
NM_000350.3:c.2744-116_2744-115insTGT MANE Select	NP_000341.2:n.2744-116_2744-115insTGT