Canonical Allele Identifier: CA2693054422

Gene: ANOS1

Linked Data

• gnomAD v4: X-8731700-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.8731704del , CM000685.2:g.8731704del	GRCh38
NC_000023.10:g.8699745del , CM000685.1:g.8699745del	GRCh37
NC_000023.9:g.8659745del	NCBI36
NG_007088.1:g.5486del
NG_007088.2:g.5486del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262648.8:c.207+129del MANE Select	ENSP00000262648.3:n.207+129del
ENST00000262648.7:c.207+129del	ENSP00000262648.3:n.207+129del
ENST00000619786.1:c.204+129del	ENSP00000478734.1:n.204+129del
NM_000216.2:c.207+129del	NP_000207.2:n.207+129del
XM_005274501.3:c.207+129del	XP_005274558.1:n.207+129del
NM_000216.3:c.207+129del	NP_000207.2:n.207+129del
XM_005274501.4:c.207+129del	XP_005274558.1:n.207+129del
NM_000216.4:c.207+129del MANE Select	NP_000207.2:n.207+129del