Canonical Allele Identifier: CA2414666118
Gene: ANOS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.8731603_8731604delinsAG , CM000685.2:g.8731603_8731604delinsAG GRCh38
NC_000023.10:g.8699644_8699645delinsAG , CM000685.1:g.8699644_8699645delinsAG GRCh37
NC_000023.9:g.8659644_8659645delinsAG NCBI36
NG_007088.1:g.5583_5584delinsCT
NG_007088.2:g.5583_5584delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000262648.8:c.207+226_207+227delinsCT MANE Select ENSP00000262648.3:n.207+226_207+227delinsCT
ENST00000262648.7:c.207+226_207+227delinsCT ENSP00000262648.3:n.207+226_207+227delinsCT
ENST00000619786.1:c.204+226_204+227delinsCT ENSP00000478734.1:n.204+226_204+227delinsCT
NM_000216.2:c.207+226_207+227delinsCT NP_000207.2:n.207+226_207+227delinsCT
XM_005274501.3:c.207+226_207+227delinsCT XP_005274558.1:n.207+226_207+227delinsCT
NM_000216.3:c.207+226_207+227delinsCT NP_000207.2:n.207+226_207+227delinsCT
XM_005274501.4:c.207+226_207+227delinsCT XP_005274558.1:n.207+226_207+227delinsCT
NM_000216.4:c.207+226_207+227delinsCT MANE Select NP_000207.2:n.207+226_207+227delinsCT