Canonical Allele Identifier: CA2744618329

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94047154_94047155insAGA , CM000663.2:g.94047154_94047155insAGA	GRCh38
NC_000001.10:g.94512710_94512711insAGA , CM000663.1:g.94512710_94512711insAGA	GRCh37
NC_000001.9:g.94285298_94285299insAGA	NCBI36
NG_009073.1:g.78995_78996insTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2744-62_2744-61insTCT MANE Select	ENSP00000359245.3:n.2744-62_2744-61insTCT
ENST00000649773.1:c.2522-62_2522-61insTCT	ENSP00000496882.1:n.2522-62_2522-61insTCT
ENST00000370225.3:c.2744-62_2744-61insTCT	ENSP00000359245.3:n.2744-62_2744-61insTCT
ENST00000536513.5:c.-64-7066_-64-7065insTCT	ENSP00000439707.2:n.-64-7066_-64-7065insTCT
NM_000350.2:c.2744-62_2744-61insTCT	NP_000341.2:n.2744-62_2744-61insTCT
NM_000350.3:c.2744-62_2744-61insTCT MANE Select	NP_000341.2:n.2744-62_2744-61insTCT