Canonical Allele Identifier: CA2744621207
Gene: ABCA4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94111657_94111658insACAG , CM000663.2:g.94111657_94111658insACAG GRCh38
NC_000001.10:g.94577213_94577214insACAG , CM000663.1:g.94577213_94577214insACAG GRCh37
NC_000001.9:g.94349801_94349802insACAG NCBI36
NG_009073.1:g.14492_14493insCTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.161-79_161-78insCTGT MANE Select ENSP00000359245.3:n.161-79_161-78insCTGT
ENST00000649773.1:c.161-79_161-78insCTGT ENSP00000496882.1:n.161-79_161-78insCTGT
ENST00000370225.3:c.161-79_161-78insCTGT ENSP00000359245.3:n.161-79_161-78insCTGT
NM_000350.2:c.161-79_161-78insCTGT NP_000341.2:n.161-79_161-78insCTGT
NM_000350.3:c.161-79_161-78insCTGT MANE Select NP_000341.2:n.161-79_161-78insCTGT