Canonical Allele Identifier: CA2744618345

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94047171_94047172del , CM000663.2:g.94047171_94047172del	GRCh38
NC_000001.10:g.94512727_94512728del , CM000663.1:g.94512727_94512728del	GRCh37
NC_000001.9:g.94285315_94285316del	NCBI36
NG_009073.1:g.78979_78980del

Transcript Alleles

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