Canonical Allele Identifier: CA1181419875

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94041042_94041043delinsAG , CM000663.2:g.94041042_94041043delinsAG	GRCh38
NC_000001.10:g.94506598_94506599delinsAG , CM000663.1:g.94506598_94506599delinsAG	GRCh37
NC_000001.9:g.94279186_94279187delinsAG	NCBI36
NG_009073.1:g.85107_85108delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.3522+166_3522+167delinsCT MANE Select	ENSP00000359245.3:n.3522+166_3522+167delinsCT
ENST00000370225.3:c.3522+166_3522+167delinsCT	ENSP00000359245.3:n.3522+166_3522+167delinsCT
ENST00000536513.5:c.-64-954_-64-953delinsCT	ENSP00000439707.2:n.-64-954_-64-953delinsCT
NM_000350.2:c.3522+166_3522+167delinsCT	NP_000341.2:n.3522+166_3522+167delinsCT
NM_000350.3:c.3522+166_3522+167delinsCT MANE Select	NP_000341.2:n.3522+166_3522+167delinsCT