Canonical Allele Identifier: CA2744618310

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94047093_94047094insA , CM000663.2:g.94047093_94047094insA	GRCh38
NC_000001.10:g.94512649_94512650insA , CM000663.1:g.94512649_94512650insA	GRCh37
NC_000001.9:g.94285237_94285238insA	NCBI36
NG_009073.1:g.79056_79057insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2744-1_2744insT MANE Select	ENSP00000359245.3:n.2744-1_2744insT
ENST00000649773.1:c.2522-1_2522insT	ENSP00000496882.1:n.2522-1_2522insT
ENST00000370225.3:c.2744-1_2744insT	ENSP00000359245.3:n.2744-1_2744insT
ENST00000536513.5:c.-64-7005_-64-7004insT	ENSP00000439707.2:n.-64-7005_-64-7004insT
NM_000350.2:c.2744-1_2744insT	NP_000341.2:n.2744-1_2744insT
NM_000350.3:c.2744-1_2744insT MANE Select	NP_000341.2:n.2744-1_2744insT