Canonical Allele Identifier: CA313663520

Gene: VSX1

Linked Data

• dbSNP Id: rs570247565
• gnomAD v2: 20-25059781-CTCTT-C
• gnomAD v3: 20-25079145-CTCTT-C
• gnomAD v4: 20-25079145-CTCTT-C
• MyVariant Identifiers: chr20:g.25059782_25059785del (hg19) ; chr20:g.25079146_25079149del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.25079150_25079153del , CM000682.2:g.25079150_25079153del	GRCh38
NC_000020.10:g.25059786_25059789del , CM000682.1:g.25059786_25059789del	GRCh37
NC_000020.9:g.25007786_25007789del	NCBI36
NG_008101.1:g.7983_7986del
NG_008101.2:g.7983_7986del
NG_008101.3:g.8033_8036del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376709.9:c.504-197_504-194del MANE Select	ENSP00000365899.3:n.504-197_504-194del
ENST00000376707.4:c.504-197_504-194del	ENSP00000365897.3:n.504-197_504-194del
ENST00000376709.8:c.504-197_504-194del	ENSP00000365899.3:n.504-197_504-194del
ENST00000409285.6:c.504-197_504-194del	ENSP00000386612.2:n.504-197_504-194del
ENST00000409958.6:c.504-197_504-194del	ENSP00000387069.2:n.504-197_504-194del
ENST00000429762.7:c.504-197_504-194del	ENSP00000401690.3:n.504-197_504-194del
ENST00000444511.6:c.504-197_504-194del	ENSP00000387720.2:n.504-197_504-194del
NM_001256271.1:c.504-197_504-194del	NP_001243200.1:n.504-197_504-194del
NM_001256272.1:c.504-197_504-194del	NP_001243201.1:n.504-197_504-194del
NM_014588.5:c.504-197_504-194del	NP_055403.2:n.504-197_504-194del
NM_199425.2:c.504-197_504-194del	NP_955457.1:n.504-197_504-194del
NR_045948.1:n.787-197_787-194del
NR_045951.1:n.787-197_787-194del
XM_017027837.1:c.504-197_504-194del	XP_016883326.1:n.504-197_504-194del
XM_017027838.1:c.504-197_504-194del	XP_016883327.1:n.504-197_504-194del
NM_014588.6:c.504-197_504-194del MANE Select	NP_055403.2:n.504-197_504-194del
NR_165181.1:n.262-197_262-194del
NM_001256271.2:c.504-197_504-194del	NP_001243200.1:n.504-197_504-194del
NM_001256272.2:c.504-197_504-194del	NP_001243201.1:n.504-197_504-194del
NM_199425.3:c.504-197_504-194del	NP_955457.1:n.504-197_504-194del
NR_045948.2:n.549-197_549-194del
NR_045951.2:n.549-197_549-194del
NR_165181.2:n.144-197_144-194del