Canonical Allele Identifier: CA2573159630
Gene: ANOS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1451691
ClinVar RCV Id: RCV001993312
dbSNP Id: rs2146919105
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.8731835del , CM000685.2:g.8731835del GRCh38
NC_000023.10:g.8699876del , CM000685.1:g.8699876del GRCh37
NC_000023.9:g.8659876del NCBI36
NG_007088.1:g.5353del
NG_007088.2:g.5353del

Transcript Alleles

HGVS Amino-acid Change
ENST00000262648.8:c.203del MANE Select ENSP00000262648.3:p.Phe68SerfsTer29
ENST00000262648.7:c.203del ENSP00000262648.3:p.Phe68SerfsTer29
ENST00000619786.1:c.200del ENSP00000478734.1:p.Phe67SerfsTer29
NM_000216.2:c.203del NP_000207.2:p.Phe68SerfsTer29
XM_005274501.3:c.203del XP_005274558.1:p.Phe68SerfsTer29
NM_000216.3:c.203del NP_000207.2:p.Phe68SerfsTer29
XM_005274501.4:c.203del XP_005274558.1:p.Phe68SerfsTer29
NM_000216.4:c.203del MANE Select NP_000207.2:p.Phe68SerfsTer29
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