Canonical Allele Identifier: CA2586964148

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94021656del , CM000663.2:g.94021656del	GRCh38
NC_000001.10:g.94487212del , CM000663.1:g.94487212del	GRCh37
NC_000001.9:g.94259800del	NCBI36
NG_009073.1:g.104494del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4832del MANE Select	ENSP00000359245.3:p.Thr1611MetfsTer?
ENST00000370225.3:c.4832del	ENSP00000359245.3:p.Thr1611MetfsTer?
ENST00000460514.1:n.326del
ENST00000536513.5:c.1208del	ENSP00000439707.2:p.Thr403MetfsTer?
NM_000350.2:c.4832del	NP_000341.2:p.Thr1611MetfsTer?
NM_000350.3:c.4832del MANE Select	NP_000341.2:p.Thr1611MetfsTer?