Canonical Allele Identifier: CA2744618369

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94047187_94047188insAGA , CM000663.2:g.94047187_94047188insAGA	GRCh38
NC_000001.10:g.94512743_94512744insAGA , CM000663.1:g.94512743_94512744insAGA	GRCh37
NC_000001.9:g.94285331_94285332insAGA	NCBI36
NG_009073.1:g.78962_78963insTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2744-95_2744-94insTCT MANE Select	ENSP00000359245.3:n.2744-95_2744-94insTCT
ENST00000649773.1:c.2522-95_2522-94insTCT	ENSP00000496882.1:n.2522-95_2522-94insTCT
ENST00000370225.3:c.2744-95_2744-94insTCT	ENSP00000359245.3:n.2744-95_2744-94insTCT
ENST00000536513.5:c.-64-7099_-64-7098insTCT	ENSP00000439707.2:n.-64-7099_-64-7098insTCT
NM_000350.2:c.2744-95_2744-94insTCT	NP_000341.2:n.2744-95_2744-94insTCT
NM_000350.3:c.2744-95_2744-94insTCT MANE Select	NP_000341.2:n.2744-95_2744-94insTCT