Canonical Allele Identifier: CA2652201172

Gene: VSX1

Linked Data

• gnomAD v4: 20-25077652-T-TCGAGC

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.25077655_25077659dup , CM000682.2:g.25077655_25077659dup	GRCh38
NC_000020.10:g.25058291_25058295dup , CM000682.1:g.25058291_25058295dup	GRCh37
NC_000020.9:g.25006291_25006295dup	NCBI36
NG_008101.1:g.9475_9479dup
NG_008101.2:g.9475_9479dup
NG_008101.3:g.9525_9529dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376709.9:c.808+28_808+32dup MANE Select	ENSP00000365899.3:n.808+28_808+32dup
ENST00000376709.8:c.808+28_808+32dup	ENSP00000365899.3:n.808+28_808+32dup
ENST00000409285.6:c.808+28_808+32dup	ENSP00000386612.2:n.808+28_808+32dup
ENST00000409958.6:c.627+1172_627+1176dup	ENSP00000387069.2:n.627+1172_627+1176dup
ENST00000429762.7:c.808+28_808+32dup	ENSP00000401690.3:n.808+28_808+32dup
ENST00000444511.6:c.627+1172_627+1176dup	ENSP00000387720.2:n.627+1172_627+1176dup
ENST00000557285.1:n.315+28_315+32dup
NM_001256271.1:c.627+1172_627+1176dup	NP_001243200.1:n.627+1172_627+1176dup
NM_001256272.1:c.808+28_808+32dup	NP_001243201.1:n.808+28_808+32dup
NM_014588.5:c.808+28_808+32dup	NP_055403.2:n.808+28_808+32dup
NR_045948.1:n.1091+28_1091+32dup
NR_045951.1:n.910+1172_910+1176dup
XM_017027837.1:c.808+28_808+32dup	XP_016883326.1:n.808+28_808+32dup
XM_017027838.1:c.627+1172_627+1176dup	XP_016883327.1:n.627+1172_627+1176dup
NM_014588.6:c.808+28_808+32dup MANE Select	NP_055403.2:n.808+28_808+32dup
NR_165181.1:n.818+28_818+32dup
NR_165182.1:n.368+28_368+32dup
NR_165183.1:n.368+28_368+32dup
NR_165184.1:n.368+28_368+32dup
NM_001256271.2:c.627+1172_627+1176dup	NP_001243200.1:n.627+1172_627+1176dup
NM_001256272.2:c.808+28_808+32dup	NP_001243201.1:n.808+28_808+32dup
NM_001378633.1:c.115+28_115+32dup	NP_001365562.1:n.115+28_115+32dup
NR_045948.2:n.853+28_853+32dup
NR_045951.2:n.672+1172_672+1176dup
NR_165181.2:n.700+28_700+32dup
NR_165182.2:n.368+28_368+32dup
NR_165183.2:n.368+28_368+32dup