Canonical Allele Identifier: CA144759
Gene: NANOS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 65390
ClinVar RCV Id: RCV000055617 RCV002515744 RCV003915019
dbSNP Id: rs587777031
ExAC: 10:120789542 CCCT / C
gnomAD v2: 10-120789542-CCCT-C
gnomAD v3: 10-119030030-CCCT-C
gnomAD v4: 10-119030030-CCCT-C
MyVariant Identifiers: chr10:g.120789553_120789555del (hg19) chr10:g.120789549_120789551del (hg19) chr10:g.120789543_120789545del (hg19) chr10:g.119030041_119030043del (hg38) chr10:g.119030037_119030039del (hg38) chr10:g.119030032_119030034del (hg38) chr10:g.119030031_119030033del (hg38)
PubMed: PMID:23315541
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.119030041_119030043del , CM000672.2:g.119030041_119030043del GRCh38
NC_000010.10:g.120789553_120789555del , CM000672.1:g.120789553_120789555del GRCh37
NC_000010.9:g.120779543_120779545del NCBI36
NG_050764.1:g.5326_5328del

Transcript Alleles

HGVS Amino-acid Change
ENST00000425699.3:c.240_242del MANE Select ENSP00000393275.1:p.Ser81del
ENST00000425699.2:c.240_242del ENSP00000393275.1:p.Ser81del
NM_199461.2:c.240_242del NP_955631.1:p.Ser81del
NM_199461.3:c.240_242del NP_955631.1:p.Ser81del
NM_199461.4:c.240_242del MANE Select NP_955631.1:p.Ser81del
Search 100 bp 5'
Search 100 bp 3'