Canonical Allele Identifier: CA2586966862

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94001912del , CM000663.2:g.94001912del	GRCh38
NC_000001.10:g.94467468del , CM000663.1:g.94467468del	GRCh37
NC_000001.9:g.94240056del	NCBI36
NG_009073.1:g.124238del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.6228del MANE Select	ENSP00000359245.3:p.Lys2076AsnfsTer?
ENST00000370225.3:c.6228del	ENSP00000359245.3:p.Lys2076AsnfsTer?
ENST00000465352.1:n.644del
ENST00000536513.5:c.2604del	ENSP00000439707.2:p.Lys868AsnfsTer?
NM_000350.2:c.6228del	NP_000341.2:p.Lys2076AsnfsTer?
NM_000350.3:c.6228del MANE Select	NP_000341.2:p.Lys2076AsnfsTer?