Canonical Allele Identifier: CA2744618313

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94047112_94047113insCCAAACACACCCAAC , CM000663.2:g.94047112_94047113insCCAAACACACCCAAC	GRCh38
NC_000001.10:g.94512668_94512669insCCAAACACACCCAAC , CM000663.1:g.94512668_94512669insCCAAACACACCCAAC	GRCh37
NC_000001.9:g.94285256_94285257insCCAAACACACCCAAC	NCBI36
NG_009073.1:g.79037_79038insGTTGGGTGTGTTTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2744-20_2744-19insGTTGGGTGTGTTTGG MANE Select	ENSP00000359245.3:n.2744-20_2744-19insGTTGGGTGTGTTTGG
ENST00000649773.1:c.2522-20_2522-19insGTTGGGTGTGTTTGG	ENSP00000496882.1:n.2522-20_2522-19insGTTGGGTGTGTTTGG
ENST00000370225.3:c.2744-20_2744-19insGTTGGGTGTGTTTGG	ENSP00000359245.3:n.2744-20_2744-19insGTTGGGTGTGTTTGG
ENST00000536513.5:c.-64-7024_-64-7023insGTTGGGTGTGTTTGG	ENSP00000439707.2:n.-64-7024_-64-7023insGTTGGGTGTGTTTGG
NM_000350.2:c.2744-20_2744-19insGTTGGGTGTGTTTGG	NP_000341.2:n.2744-20_2744-19insGTTGGGTGTGTTTGG
NM_000350.3:c.2744-20_2744-19insGTTGGGTGTGTTTGG MANE Select	NP_000341.2:n.2744-20_2744-19insGTTGGGTGTGTTTGG