Canonical Allele Identifier: CA2573159631

Gene: ANOS1

Linked Data

• ClinVar Variation Id: 1387367
• ClinVar RCV Id: RCV001875552
• dbSNP Id: rs2146919128

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.8731859_8731869del , CM000685.2:g.8731859_8731869del	GRCh38
NC_000023.10:g.8699900_8699910del , CM000685.1:g.8699900_8699910del	GRCh37
NC_000023.9:g.8659900_8659910del	NCBI36
NG_007088.1:g.5321_5331del
NG_007088.2:g.5321_5331del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262648.8:c.171_181del MANE Select	ENSP00000262648.3:p.Gln57HisfsTer25
ENST00000262648.7:c.171_181del	ENSP00000262648.3:p.Gln57HisfsTer25
ENST00000619786.1:c.168_178del	ENSP00000478734.1:p.Gln56HisfsTer25
NM_000216.2:c.171_181del	NP_000207.2:p.Gln57HisfsTer25
XM_005274501.3:c.171_181del	XP_005274558.1:p.Gln57HisfsTer25
NM_000216.3:c.171_181del	NP_000207.2:p.Gln57HisfsTer25
XM_005274501.4:c.171_181del	XP_005274558.1:p.Gln57HisfsTer25
NM_000216.4:c.171_181del MANE Select	NP_000207.2:p.Gln57HisfsTer25