Canonical Allele Identifier: CA10343851

Gene: ANOS1

Linked Data

• dbSNP Id: rs781559285
• ExAC: X:8699832 GC / G
• gnomAD v2: X-8699832-GC-G
• MyVariant Identifiers: chrX:g.8699833del (hg19) ; chrX:g.8731792del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.8731792del , CM000685.2:g.8731792del	GRCh38
NC_000023.10:g.8699833del , CM000685.1:g.8699833del	GRCh37
NC_000023.9:g.8659833del	NCBI36
NG_007088.1:g.5395del
NG_007088.2:g.5395del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262648.8:c.207+38del MANE Select	ENSP00000262648.3:n.207+38del
ENST00000262648.7:c.207+38del	ENSP00000262648.3:n.207+38del
ENST00000619786.1:c.204+38del	ENSP00000478734.1:n.204+38del
NM_000216.2:c.207+38del	NP_000207.2:n.207+38del
XM_005274501.3:c.207+38del	XP_005274558.1:n.207+38del
NM_000216.3:c.207+38del	NP_000207.2:n.207+38del
XM_005274501.4:c.207+38del	XP_005274558.1:n.207+38del
NM_000216.4:c.207+38del MANE Select	NP_000207.2:n.207+38del