Canonical Allele Identifier: CA634921240

Gene: VSX1

Linked Data

• dbSNP Id: rs1405965375
• gnomAD v2: 20-25059584-CTG-C
• MyVariant Identifiers: chr20:g.25059585_25059586del (hg19) ; chr20:g.25078949_25078950del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.25078950_25078951del , CM000682.2:g.25078950_25078951del	GRCh38
NC_000020.10:g.25059586_25059587del , CM000682.1:g.25059586_25059587del	GRCh37
NC_000020.9:g.25007586_25007587del	NCBI36
NG_008101.1:g.8182_8183del
NG_008101.2:g.8182_8183del
NG_008101.3:g.8232_8233del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376709.9:c.506_507del MANE Select	ENSP00000365899.3:p.Thr169SerfsTer21
ENST00000376707.4:c.506_507del	ENSP00000365897.3:p.Thr169SerfsTer21
ENST00000376709.8:c.506_507del	ENSP00000365899.3:p.Thr169SerfsTer21
ENST00000409285.6:c.506_507del	ENSP00000386612.2:p.Thr169SerfsTer21
ENST00000409958.6:c.506_507del	ENSP00000387069.2:p.Thr169SerfsTer21
ENST00000429762.7:c.506_507del	ENSP00000401690.3:p.Thr169SerfsTer21
ENST00000444511.6:c.506_507del	ENSP00000387720.2:p.Thr169SerfsTer21
NM_001256271.1:c.506_507del	NP_001243200.1:p.Thr169SerfsTer21
NM_001256272.1:c.506_507del	NP_001243201.1:p.Thr169SerfsTer21
NM_014588.5:c.506_507del	NP_055403.2:p.Thr169SerfsTer21
NM_199425.2:c.506_507del	NP_955457.1:p.Thr169SerfsTer21
NR_045948.1:n.789_790del
NR_045951.1:n.789_790del
XM_017027837.1:c.506_507del	XP_016883326.1:p.Thr169SerfsTer21
XM_017027838.1:c.506_507del	XP_016883327.1:p.Thr169SerfsTer21
NM_014588.6:c.506_507del MANE Select	NP_055403.2:p.Thr169SerfsTer21
NR_165181.1:n.264_265del
NM_001256271.2:c.506_507del	NP_001243200.1:p.Thr169SerfsTer21
NM_001256272.2:c.506_507del	NP_001243201.1:p.Thr169SerfsTer21
NM_199425.3:c.506_507del	NP_955457.1:p.Thr169SerfsTer21
NR_045948.2:n.551_552del
NR_045951.2:n.551_552del
NR_165181.2:n.146_147del