Canonical Allele Identifier: CA645705926
Gene: ABCA4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94011193_94011194insC , CM000663.2:g.94011193_94011194insC GRCh38
NC_000001.10:g.94476749_94476750insC , CM000663.1:g.94476749_94476750insC GRCh37
NC_000001.9:g.94249337_94249338insC NCBI36
NG_009073.1:g.114956_114957insG

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.5584+68_5584+69insG MANE Select ENSP00000359245.3:n.5584+68_5584+69insG
ENST00000370225.3:c.5584+68_5584+69insG ENSP00000359245.3:n.5584+68_5584+69insG
ENST00000536513.5:c.1960+68_1960+69insG ENSP00000439707.2:n.1960+68_1960+69insG
NM_000350.2:c.5584+68_5584+69insG NP_000341.2:n.5584+68_5584+69insG
NM_000350.3:c.5584+68_5584+69insG MANE Select NP_000341.2:n.5584+68_5584+69insG