Canonical Allele Identifier: CA2586966886

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94047034_94047037delinsA , CM000663.2:g.94047034_94047037delinsA	GRCh38
NC_000001.10:g.94512590_94512593delinsA , CM000663.1:g.94512590_94512593delinsA	GRCh37
NC_000001.9:g.94285178_94285181delinsA	NCBI36
NG_009073.1:g.79113_79116delinsT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2800_2803delinsT MANE Select	ENSP00000359245.3:p.Val935del
ENST00000649773.1:c.2578_2581delinsT	ENSP00000496882.1:p.Val861del
ENST00000370225.3:c.2800_2803delinsT	ENSP00000359245.3:p.Val935del
ENST00000536513.5:c.-64-6948_-64-6945delinsT	ENSP00000439707.2:n.-64-6948_-64-6945delinsT
NM_000350.2:c.2800_2803delinsT	NP_000341.2:p.Val935del
NM_000350.3:c.2800_2803delinsT MANE Select	NP_000341.2:p.Val935del