Canonical Allele Identifier: CA879236386

Gene: ANOS1

Linked Data

• dbSNP Id: rs1205673894
• gnomAD v2: X-8699683-G-GA
• gnomAD v3: X-8731642-G-GA
• gnomAD v4: X-8731642-G-GA
• MyVariant Identifiers: chrX:g.8699683_8699684insA (hg19) ; chrX:g.8731642_8731643insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.8731643dup , CM000685.2:g.8731643dup	GRCh38
NC_000023.10:g.8699684dup , CM000685.1:g.8699684dup	GRCh37
NC_000023.9:g.8659684dup	NCBI36
NG_007088.1:g.5544dup
NG_007088.2:g.5544dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262648.8:c.207+187dup MANE Select	ENSP00000262648.3:n.207+187dup
ENST00000262648.7:c.207+187dup	ENSP00000262648.3:n.207+187dup
ENST00000619786.1:c.204+187dup	ENSP00000478734.1:n.204+187dup
NM_000216.2:c.207+187dup	NP_000207.2:n.207+187dup
XM_005274501.3:c.207+187dup	XP_005274558.1:n.207+187dup
NM_000216.3:c.207+187dup	NP_000207.2:n.207+187dup
XM_005274501.4:c.207+187dup	XP_005274558.1:n.207+187dup
NM_000216.4:c.207+187dup MANE Select	NP_000207.2:n.207+187dup