Canonical Allele Identifier: CA640857306

Gene: ANOS1

Linked Data

• dbSNP Id: rs1427271828
• gnomAD v2: X-8699669-CTTT-C
• gnomAD v3: X-8731628-CTTT-C
• gnomAD v4: X-8731628-CTTT-C
• MyVariant Identifiers: chrX:g.8699670_8699672del (hg19) ; chrX:g.8731629_8731631del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.8731631_8731633del , CM000685.2:g.8731631_8731633del	GRCh38
NC_000023.10:g.8699672_8699674del , CM000685.1:g.8699672_8699674del	GRCh37
NC_000023.9:g.8659672_8659674del	NCBI36
NG_007088.1:g.5556_5558del
NG_007088.2:g.5556_5558del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262648.8:c.207+199_207+201del MANE Select	ENSP00000262648.3:n.207+199_207+201del
ENST00000262648.7:c.207+199_207+201del	ENSP00000262648.3:n.207+199_207+201del
ENST00000619786.1:c.204+199_204+201del	ENSP00000478734.1:n.204+199_204+201del
NM_000216.2:c.207+199_207+201del	NP_000207.2:n.207+199_207+201del
XM_005274501.3:c.207+199_207+201del	XP_005274558.1:n.207+199_207+201del
NM_000216.3:c.207+199_207+201del	NP_000207.2:n.207+199_207+201del
XM_005274501.4:c.207+199_207+201del	XP_005274558.1:n.207+199_207+201del
NM_000216.4:c.207+199_207+201del MANE Select	NP_000207.2:n.207+199_207+201del