Canonical Allele Identifier: CA2586964147

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94021644del , CM000663.2:g.94021644del	GRCh38
NC_000001.10:g.94487200del , CM000663.1:g.94487200del	GRCh37
NC_000001.9:g.94259788del	NCBI36
NG_009073.1:g.104507del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4845del MANE Select	ENSP00000359245.3:p.Lys1616ArgfsTer?
ENST00000370225.3:c.4845del	ENSP00000359245.3:p.Lys1616ArgfsTer?
ENST00000460514.1:n.339del
ENST00000536513.5:c.1221del	ENSP00000439707.2:p.Lys408ArgfsTer?
NM_000350.2:c.4845del	NP_000341.2:p.Lys1616ArgfsTer?
NM_000350.3:c.4845del MANE Select	NP_000341.2:p.Lys1616ArgfsTer?