Canonical Allele Identifier: CA16609285
Gene: ANOS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 393472
ClinVar RCV Id: RCV000445556
dbSNP Id: rs1057520210

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.8732003_8732004insT , CM000685.2:g.8732003_8732004insT GRCh38
NC_000023.10:g.8700044_8700045insT , CM000685.1:g.8700044_8700045insT GRCh37
NC_000023.9:g.8660044_8660045insT NCBI36
NG_007088.1:g.5183_5184insA
NG_007088.2:g.5183_5184insA

Transcript Alleles

HGVS Amino-acid change
ENST00000262648.8:c.33_34insA MANE Select ENSP00000262648.3:p.Leu12ThrfsTer?
ENST00000262648.7:c.33_34insA ENSP00000262648.3:p.Leu12ThrfsTer?
ENST00000619786.1:c.33_34insA ENSP00000478734.1:p.Leu12ThrfsTer?
NM_000216.2:c.33_34insA NP_000207.2:p.Leu12ThrfsTer?
XM_005274501.3:c.33_34insA XP_005274558.1:p.Leu12ThrfsTer?
NM_000216.3:c.33_34insA NP_000207.2:p.Leu12ThrfsTer?
XM_005274501.4:c.33_34insA XP_005274558.1:p.Leu12ThrfsTer?
NM_000216.4:c.33_34insA MANE Select NP_000207.2:p.Leu12ThrfsTer?