Canonical Allele Identifier: CA2744616642
Gene: ABCA4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94030708_94030709insC , CM000663.2:g.94030708_94030709insC GRCh38
NC_000001.10:g.94496264_94496265insC , CM000663.1:g.94496264_94496265insC GRCh37
NC_000001.9:g.94268852_94268853insC NCBI36
NG_009073.1:g.95441_95442insG

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4254-183_4254-182insG MANE Select ENSP00000359245.3:n.4254-183_4254-182insG
ENST00000370225.3:c.4254-183_4254-182insG ENSP00000359245.3:n.4254-183_4254-182insG
ENST00000536513.5:c.630-183_630-182insG ENSP00000439707.2:n.630-183_630-182insG
NM_000350.2:c.4254-183_4254-182insG NP_000341.2:n.4254-183_4254-182insG
NM_000350.3:c.4254-183_4254-182insG MANE Select NP_000341.2:n.4254-183_4254-182insG