Canonical Allele Identifier: CA2744618319

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94047132_94047133insAGA , CM000663.2:g.94047132_94047133insAGA	GRCh38
NC_000001.10:g.94512688_94512689insAGA , CM000663.1:g.94512688_94512689insAGA	GRCh37
NC_000001.9:g.94285276_94285277insAGA	NCBI36
NG_009073.1:g.79017_79018insTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2744-40_2744-39insTCT MANE Select	ENSP00000359245.3:n.2744-40_2744-39insTCT
ENST00000649773.1:c.2522-40_2522-39insTCT	ENSP00000496882.1:n.2522-40_2522-39insTCT
ENST00000370225.3:c.2744-40_2744-39insTCT	ENSP00000359245.3:n.2744-40_2744-39insTCT
ENST00000536513.5:c.-64-7044_-64-7043insTCT	ENSP00000439707.2:n.-64-7044_-64-7043insTCT
NM_000350.2:c.2744-40_2744-39insTCT	NP_000341.2:n.2744-40_2744-39insTCT
NM_000350.3:c.2744-40_2744-39insTCT MANE Select	NP_000341.2:n.2744-40_2744-39insTCT