Canonical Allele Identifier: CA2744618336

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94047164_94047165insAGA , CM000663.2:g.94047164_94047165insAGA	GRCh38
NC_000001.10:g.94512720_94512721insAGA , CM000663.1:g.94512720_94512721insAGA	GRCh37
NC_000001.9:g.94285308_94285309insAGA	NCBI36
NG_009073.1:g.78985_78986insTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2744-72_2744-71insTCT MANE Select	ENSP00000359245.3:n.2744-72_2744-71insTCT
ENST00000649773.1:c.2522-72_2522-71insTCT	ENSP00000496882.1:n.2522-72_2522-71insTCT
ENST00000370225.3:c.2744-72_2744-71insTCT	ENSP00000359245.3:n.2744-72_2744-71insTCT
ENST00000536513.5:c.-64-7076_-64-7075insTCT	ENSP00000439707.2:n.-64-7076_-64-7075insTCT
NM_000350.2:c.2744-72_2744-71insTCT	NP_000341.2:n.2744-72_2744-71insTCT
NM_000350.3:c.2744-72_2744-71insTCT MANE Select	NP_000341.2:n.2744-72_2744-71insTCT