Canonical Allele Identifier: CA2356695773

Gene: VSX1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.25077635_25077647delinsCCACCTCCTACAA , CM000682.2:g.25077635_25077647delinsCCACCTCCTACAA	GRCh38
NC_000020.10:g.25058271_25058283delinsCCACCTCCTACAA , CM000682.1:g.25058271_25058283delinsCCACCTCCTACAA	GRCh37
NC_000020.9:g.25006271_25006283delinsCCACCTCCTACAA	NCBI36
NG_008101.1:g.9485_9497delinsTTGTAGGAGGTGG
NG_008101.2:g.9485_9497delinsTTGTAGGAGGTGG
NG_008101.3:g.9535_9547delinsTTGTAGGAGGTGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000376709.9:c.808+38_808+50delinsTTGTAGGAGGTGG MANE Select	ENSP00000365899.3:n.808+38_808+50delinsTTGTAGGAGGTGG
ENST00000376709.8:c.808+38_808+50delinsTTGTAGGAGGTGG	ENSP00000365899.3:n.808+38_808+50delinsTTGTAGGAGGTGG
ENST00000409285.6:c.808+38_808+50delinsTTGTAGGAGGTGG	ENSP00000386612.2:n.808+38_808+50delinsTTGTAGGAGGTGG
ENST00000409958.6:c.627+1182_627+1194delinsTTGTAGGAGGTGG	ENSP00000387069.2:n.627+1182_627+1194delinsTTGTAGGAGGTGG
ENST00000429762.7:c.808+38_808+50delinsTTGTAGGAGGTGG	ENSP00000401690.3:n.808+38_808+50delinsTTGTAGGAGGTGG
ENST00000444511.6:c.627+1182_627+1194delinsTTGTAGGAGGTGG	ENSP00000387720.2:n.627+1182_627+1194delinsTTGTAGGAGGTGG
ENST00000557285.1:n.315+38_315+50delinsTTGTAGGAGGTGG
NM_001256271.1:c.627+1182_627+1194delinsTTGTAGGAGGTGG	NP_001243200.1:n.627+1182_627+1194delinsTTGTAGGAGGTGG
NM_001256272.1:c.808+38_808+50delinsTTGTAGGAGGTGG	NP_001243201.1:n.808+38_808+50delinsTTGTAGGAGGTGG
NM_014588.5:c.808+38_808+50delinsTTGTAGGAGGTGG	NP_055403.2:n.808+38_808+50delinsTTGTAGGAGGTGG
NR_045948.1:n.1091+38_1091+50delinsTTGTAGGAGGTGG
NR_045951.1:n.910+1182_910+1194delinsTTGTAGGAGGTGG
XM_017027837.1:c.808+38_808+50delinsTTGTAGGAGGTGG	XP_016883326.1:n.808+38_808+50delinsTTGTAGGAGGTGG
XM_017027838.1:c.627+1182_627+1194delinsTTGTAGGAGGTGG	XP_016883327.1:n.627+1182_627+1194delinsTTGTAGGAGGTGG
NM_014588.6:c.808+38_808+50delinsTTGTAGGAGGTGG MANE Select	NP_055403.2:n.808+38_808+50delinsTTGTAGGAGGTGG
NR_165181.1:n.818+38_818+50delinsTTGTAGGAGGTGG
NR_165182.1:n.368+38_368+50delinsTTGTAGGAGGTGG
NR_165183.1:n.368+38_368+50delinsTTGTAGGAGGTGG
NR_165184.1:n.368+38_368+50delinsTTGTAGGAGGTGG
NM_001256271.2:c.627+1182_627+1194delinsTTGTAGGAGGTGG	NP_001243200.1:n.627+1182_627+1194delinsTTGTAGGAGGTGG
NM_001256272.2:c.808+38_808+50delinsTTGTAGGAGGTGG	NP_001243201.1:n.808+38_808+50delinsTTGTAGGAGGTGG
NM_001378633.1:c.115+38_115+50delinsTTGTAGGAGGTGG	NP_001365562.1:n.115+38_115+50delinsTTGTAGGAGGTGG
NR_045948.2:n.853+38_853+50delinsTTGTAGGAGGTGG
NR_045951.2:n.672+1182_672+1194delinsTTGTAGGAGGTGG
NR_165181.2:n.700+38_700+50delinsTTGTAGGAGGTGG
NR_165182.2:n.368+38_368+50delinsTTGTAGGAGGTGG
NR_165183.2:n.368+38_368+50delinsTTGTAGGAGGTGG