Canonical Allele Identifier: CA2744618853

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94056840_94056841insAGA , CM000663.2:g.94056840_94056841insAGA	GRCh38
NC_000001.10:g.94522396_94522397insAGA , CM000663.1:g.94522396_94522397insAGA	GRCh37
NC_000001.9:g.94294984_94294985insAGA	NCBI36
NG_009073.1:g.69309_69310insTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2161-19_2161-18insTCT MANE Select	ENSP00000359245.3:n.2161-19_2161-18insTCT
ENST00000649773.1:c.2161-1526_2161-1525insTCT	ENSP00000496882.1:n.2161-1526_2161-1525insTCT
ENST00000370225.3:c.2161-19_2161-18insTCT	ENSP00000359245.3:n.2161-19_2161-18insTCT
ENST00000536513.5:c.-65+6333_-65+6334insTCT	ENSP00000439707.2:n.-65+6333_-65+6334insTCT
NM_000350.2:c.2161-19_2161-18insTCT	NP_000341.2:n.2161-19_2161-18insTCT
NM_000350.3:c.2161-19_2161-18insTCT MANE Select	NP_000341.2:n.2161-19_2161-18insTCT