Canonical Allele Identifier: CA1181426440

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94056578_94056579delinsAG , CM000663.2:g.94056578_94056579delinsAG	GRCh38
NC_000001.10:g.94522134_94522135delinsAG , CM000663.1:g.94522134_94522135delinsAG	GRCh37
NC_000001.9:g.94294722_94294723delinsAG	NCBI36
NG_009073.1:g.69571_69572delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2382+22_2382+23delinsCT MANE Select	ENSP00000359245.3:n.2382+22_2382+23delinsCT
ENST00000649773.1:c.2161-1264_2161-1263delinsCT	ENSP00000496882.1:n.2161-1264_2161-1263delinsCT
ENST00000370225.3:c.2382+22_2382+23delinsCT	ENSP00000359245.3:n.2382+22_2382+23delinsCT
ENST00000536513.5:c.-65+6595_-65+6596delinsCT	ENSP00000439707.2:n.-65+6595_-65+6596delinsCT
NM_000350.2:c.2382+22_2382+23delinsCT	NP_000341.2:n.2382+22_2382+23delinsCT
NM_000350.3:c.2382+22_2382+23delinsCT MANE Select	NP_000341.2:n.2382+22_2382+23delinsCT