Canonical Allele Identifier: CA2744618327

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94047147_94047148insAGA , CM000663.2:g.94047147_94047148insAGA	GRCh38
NC_000001.10:g.94512703_94512704insAGA , CM000663.1:g.94512703_94512704insAGA	GRCh37
NC_000001.9:g.94285291_94285292insAGA	NCBI36
NG_009073.1:g.79002_79003insTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2744-55_2744-54insTCT MANE Select	ENSP00000359245.3:n.2744-55_2744-54insTCT
ENST00000649773.1:c.2522-55_2522-54insTCT	ENSP00000496882.1:n.2522-55_2522-54insTCT
ENST00000370225.3:c.2744-55_2744-54insTCT	ENSP00000359245.3:n.2744-55_2744-54insTCT
ENST00000536513.5:c.-64-7059_-64-7058insTCT	ENSP00000439707.2:n.-64-7059_-64-7058insTCT
NM_000350.2:c.2744-55_2744-54insTCT	NP_000341.2:n.2744-55_2744-54insTCT
NM_000350.3:c.2744-55_2744-54insTCT MANE Select	NP_000341.2:n.2744-55_2744-54insTCT