Canonical Allele Identifier: CA2744618335

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94047164_94047165insTG , CM000663.2:g.94047164_94047165insTG	GRCh38
NC_000001.10:g.94512720_94512721insTG , CM000663.1:g.94512720_94512721insTG	GRCh37
NC_000001.9:g.94285308_94285309insTG	NCBI36
NG_009073.1:g.78986_78987insAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2744-71_2744-70insAC MANE Select	ENSP00000359245.3:n.2744-71_2744-70insAC
ENST00000649773.1:c.2522-71_2522-70insAC	ENSP00000496882.1:n.2522-71_2522-70insAC
ENST00000370225.3:c.2744-71_2744-70insAC	ENSP00000359245.3:n.2744-71_2744-70insAC
ENST00000536513.5:c.-64-7075_-64-7074insAC	ENSP00000439707.2:n.-64-7075_-64-7074insAC
NM_000350.2:c.2744-71_2744-70insAC	NP_000341.2:n.2744-71_2744-70insAC
NM_000350.3:c.2744-71_2744-70insAC MANE Select	NP_000341.2:n.2744-71_2744-70insAC