Canonical Allele Identifier: CA2586964149

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94021659del , CM000663.2:g.94021659del	GRCh38
NC_000001.10:g.94487215del , CM000663.1:g.94487215del	GRCh37
NC_000001.9:g.94259803del	NCBI36
NG_009073.1:g.104493del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4831del MANE Select	ENSP00000359245.3:p.Thr1611LeufsTer?
ENST00000370225.3:c.4831del	ENSP00000359245.3:p.Thr1611LeufsTer?
ENST00000460514.1:n.325del
ENST00000536513.5:c.1207del	ENSP00000439707.2:p.Thr403LeufsTer?
NM_000350.2:c.4831del	NP_000341.2:p.Thr1611LeufsTer?
NM_000350.3:c.4831del MANE Select	NP_000341.2:p.Thr1611LeufsTer?