Canonical Allele Identifier: CA2744618375

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94047193_94047194insAGA , CM000663.2:g.94047193_94047194insAGA	GRCh38
NC_000001.10:g.94512749_94512750insAGA , CM000663.1:g.94512749_94512750insAGA	GRCh37
NC_000001.9:g.94285337_94285338insAGA	NCBI36
NG_009073.1:g.78956_78957insTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2744-101_2744-100insTCT MANE Select	ENSP00000359245.3:n.2744-101_2744-100insTCT
ENST00000649773.1:c.2522-101_2522-100insTCT	ENSP00000496882.1:n.2522-101_2522-100insTCT
ENST00000370225.3:c.2744-101_2744-100insTCT	ENSP00000359245.3:n.2744-101_2744-100insTCT
ENST00000536513.5:c.-64-7105_-64-7104insTCT	ENSP00000439707.2:n.-64-7105_-64-7104insTCT
NM_000350.2:c.2744-101_2744-100insTCT	NP_000341.2:n.2744-101_2744-100insTCT
NM_000350.3:c.2744-101_2744-100insTCT MANE Select	NP_000341.2:n.2744-101_2744-100insTCT