Canonical Allele Identifier: CA640857308

Gene: ANOS1

Linked Data

• dbSNP Id: rs1410043935
• gnomAD v2: X-8699751-AG-A
• gnomAD v3: X-8731710-AG-A
• gnomAD v4: X-8731710-AG-A
• MyVariant Identifiers: chrX:g.8699752del (hg19) ; chrX:g.8731711del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.8731712del , CM000685.2:g.8731712del	GRCh38
NC_000023.10:g.8699753del , CM000685.1:g.8699753del	GRCh37
NC_000023.9:g.8659753del	NCBI36
NG_007088.1:g.5476del
NG_007088.2:g.5476del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262648.8:c.207+119del MANE Select	ENSP00000262648.3:n.207+119del
ENST00000262648.7:c.207+119del	ENSP00000262648.3:n.207+119del
ENST00000619786.1:c.204+119del	ENSP00000478734.1:n.204+119del
NM_000216.2:c.207+119del	NP_000207.2:n.207+119del
XM_005274501.3:c.207+119del	XP_005274558.1:n.207+119del
NM_000216.3:c.207+119del	NP_000207.2:n.207+119del
XM_005274501.4:c.207+119del	XP_005274558.1:n.207+119del
NM_000216.4:c.207+119del MANE Select	NP_000207.2:n.207+119del