Canonical Allele Identifier: CA2652201740

Gene: VSX1

Linked Data

• gnomAD v4: 20-25078722-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.25078725del , CM000682.2:g.25078725del	GRCh38
NC_000020.10:g.25059361del , CM000682.1:g.25059361del	GRCh37
NC_000020.9:g.25007361del	NCBI36
NG_008101.1:g.8409del
NG_008101.2:g.8409del
NG_008101.3:g.8459del

Transcript Alleles

HGVS	Amino-acid change
ENST00000376709.9:c.627+106del MANE Select	ENSP00000365899.3:n.627+106del
ENST00000376707.4:c.*13del	ENSP00000365897.3:n.*13del
ENST00000376709.8:c.627+106del	ENSP00000365899.3:n.627+106del
ENST00000409285.6:c.627+106del	ENSP00000386612.2:n.627+106del
ENST00000409958.6:c.627+106del	ENSP00000387069.2:n.627+106del
ENST00000429762.7:c.627+106del	ENSP00000401690.3:n.627+106del
ENST00000444511.6:c.627+106del	ENSP00000387720.2:n.627+106del
NM_001256271.1:c.627+106del	NP_001243200.1:n.627+106del
NM_001256272.1:c.627+106del	NP_001243201.1:n.627+106del
NM_014588.5:c.627+106del	NP_055403.2:n.627+106del
NM_199425.2:c.*13del	NP_955457.1:n.*13del
NR_045948.1:n.910+106del
NR_045951.1:n.910+106del
XM_017027837.1:c.627+106del	XP_016883326.1:n.627+106del
XM_017027838.1:c.627+106del	XP_016883327.1:n.627+106del
NM_014588.6:c.627+106del MANE Select	NP_055403.2:n.627+106del
NR_165181.1:n.385+106del
NM_001256271.2:c.627+106del	NP_001243200.1:n.627+106del
NM_001256272.2:c.627+106del	NP_001243201.1:n.627+106del
NM_199425.3:c.*13del	NP_955457.1:n.*13del
NR_045948.2:n.672+106del
NR_045951.2:n.672+106del
NR_165181.2:n.267+106del