Canonical Allele Identifier: CA2739268071

Gene: ANOS1

Linked Data

• ClinVar Variation Id: 2856539
• ClinVar RCV Id: RCV003623341

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.8731840del , CM000685.2:g.8731840del	GRCh38
NC_000023.10:g.8699881del , CM000685.1:g.8699881del	GRCh37
NC_000023.9:g.8659881del	NCBI36
NG_007088.1:g.5347del
NG_007088.2:g.5347del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262648.8:c.197del MANE Select	ENSP00000262648.3:p.Gln66ArgfsTer?
ENST00000262648.7:c.197del	ENSP00000262648.3:p.Gln66ArgfsTer?
ENST00000619786.1:c.194del	ENSP00000478734.1:p.Gln65ArgfsTer?
NM_000216.2:c.197del	NP_000207.2:p.Gln66ArgfsTer?
XM_005274501.3:c.197del	XP_005274558.1:p.Gln66ArgfsTer?
NM_000216.3:c.197del	NP_000207.2:p.Gln66ArgfsTer?
XM_005274501.4:c.197del	XP_005274558.1:p.Gln66ArgfsTer?
NM_000216.4:c.197del MANE Select	NP_000207.2:p.Gln66ArgfsTer?