Canonical Allele Identifier: CA2573055418
Gene: ANOS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 10009
ClinVar RCV Id: RCV000010692
dbSNP Id: rs2146819139

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.8587797_8587981del , CM000685.2:g.8587797_8587981del GRCh38
NC_000023.10:g.8555838_8556022del , CM000685.1:g.8555838_8556022del GRCh37
NC_000023.9:g.8515838_8516022del NCBI36
NG_007088.1:g.149211_149395del
NG_007088.2:g.149211_149395del

Transcript Alleles

HGVS Amino-acid change
ENST00000262648.8:c.544_726+2del
ENST00000262648.7:c.544_726+2del
ENST00000619786.1:c.541_723+2del
NM_000216.2:c.544_726+2del
XM_005274501.3:c.544_726+2del
NM_000216.3:c.544_726+2del
XM_005274501.4:c.544_726+2del
NM_000216.4:c.544_726+2del