Canonical Allele Identifier: CA1143538156

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94008313_94008315delinsAAA , CM000663.2:g.94008313_94008315delinsAAA	GRCh38
NC_000001.10:g.94473869_94473871delinsAAA , CM000663.1:g.94473869_94473871delinsAAA	GRCh37
NC_000001.9:g.94246457_94246459delinsAAA	NCBI36
NG_009073.1:g.117835_117837delinsTTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000370225.4:c.5836-18_5836-16delinsTTT MANE Select	ENSP00000359245.3:n.5836-18_5836-16delinsTTT
ENST00000370225.3:c.5836-18_5836-16delinsTTT	ENSP00000359245.3:n.5836-18_5836-16delinsTTT
ENST00000465352.1:n.252-18_252-16delinsTTT
ENST00000536513.5:c.2212-18_2212-16delinsTTT	ENSP00000439707.2:n.2212-18_2212-16delinsTTT
NM_000350.2:c.5836-18_5836-16delinsTTT	NP_000341.2:n.5836-18_5836-16delinsTTT
NM_000350.3:c.5836-18_5836-16delinsTTT MANE Select	NP_000341.2:n.5836-18_5836-16delinsTTT