Canonical Allele Identifier: CA879237148

Gene: ANOS1

Linked Data

• dbSNP Id: rs1187781153
• gnomAD v3: X-8732043-GGGTCGA-G
• gnomAD v4: X-8732043-GGGTCGA-G
• MyVariant Identifiers: chrX:g.8700085_8700090del (hg19) ; chrX:g.8732044_8732049del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.8732046_8732051del , CM000685.2:g.8732046_8732051del	GRCh38
NC_000023.10:g.8700087_8700092del , CM000685.1:g.8700087_8700092del	GRCh37
NC_000023.9:g.8660087_8660092del	NCBI36
NG_007088.1:g.5138_5143del
NG_007088.2:g.5138_5143del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262648.8:c.-13_-8del MANE Select	ENSP00000262648.3:n.-13_-8del
ENST00000262648.7:c.-13_-8del	ENSP00000262648.3:n.-13_-8del
ENST00000619786.1:c.-13_-8del	ENSP00000478734.1:n.-13_-8del
NM_000216.2:c.-13_-8del	NP_000207.2:n.-13_-8del
XM_005274501.3:c.-13_-8del	XP_005274558.1:n.-13_-8del
NM_000216.3:c.-13_-8del	NP_000207.2:n.-13_-8del
XM_005274501.4:c.-13_-8del	XP_005274558.1:n.-13_-8del
NM_000216.4:c.-13_-8del MANE Select	NP_000207.2:n.-13_-8del