Canonical Allele Identifier: CA2744617347
Gene: ABCA4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94041474_94041475insC , CM000663.2:g.94041474_94041475insC GRCh38
NC_000001.10:g.94507030_94507031insC , CM000663.1:g.94507030_94507031insC GRCh37
NC_000001.9:g.94279618_94279619insC NCBI36
NG_009073.1:g.84675_84676insG

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.3329-73_3329-72insG MANE Select ENSP00000359245.3:n.3329-73_3329-72insG
ENST00000370225.3:c.3329-73_3329-72insG ENSP00000359245.3:n.3329-73_3329-72insG
ENST00000536513.5:c.-64-1386_-64-1385insG ENSP00000439707.2:n.-64-1386_-64-1385insG
NM_000350.2:c.3329-73_3329-72insG NP_000341.2:n.3329-73_3329-72insG
NM_000350.3:c.3329-73_3329-72insG MANE Select NP_000341.2:n.3329-73_3329-72insG