Canonical Allele Identifier: CA1139667218
Gene: ANOS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 975878
ClinVar RCV Id: RCV001253001
dbSNP Id: rs1932981715
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.8731863_8731866dup , CM000685.2:g.8731863_8731866dup GRCh38
NC_000023.10:g.8699904_8699907dup , CM000685.1:g.8699904_8699907dup GRCh37
NC_000023.9:g.8659904_8659907dup NCBI36
NG_007088.1:g.5321_5324dup
NG_007088.2:g.5321_5324dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000262648.8:c.171_174dup MANE Select ENSP00000262648.3:p.Thr59AspfsTer28
ENST00000262648.7:c.171_174dup ENSP00000262648.3:p.Thr59AspfsTer28
ENST00000619786.1:c.168_171dup ENSP00000478734.1:p.Thr58AspfsTer28
NM_000216.2:c.171_174dup NP_000207.2:p.Thr59AspfsTer28
XM_005274501.3:c.171_174dup XP_005274558.1:p.Thr59AspfsTer28
NM_000216.3:c.171_174dup NP_000207.2:p.Thr59AspfsTer28
XM_005274501.4:c.171_174dup XP_005274558.1:p.Thr59AspfsTer28
NM_000216.4:c.171_174dup MANE Select NP_000207.2:p.Thr59AspfsTer28
Search 100 bp 5'
Search 100 bp 3'