Canonical Allele Identifier: CA2652201774

Gene: VSX1

Linked Data

• gnomAD v4: 20-25079000-A-ATGT

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.25079000_25079001insTGT , CM000682.2:g.25079000_25079001insTGT	GRCh38
NC_000020.10:g.25059636_25059637insTGT , CM000682.1:g.25059636_25059637insTGT	GRCh37
NC_000020.9:g.25007636_25007637insTGT	NCBI36
NG_008101.1:g.8131_8132insACA
NG_008101.2:g.8131_8132insACA
NG_008101.3:g.8181_8182insACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376709.9:c.504-49_504-48insACA MANE Select	ENSP00000365899.3:n.504-49_504-48insACA
ENST00000376707.4:c.504-49_504-48insACA	ENSP00000365897.3:n.504-49_504-48insACA
ENST00000376709.8:c.504-49_504-48insACA	ENSP00000365899.3:n.504-49_504-48insACA
ENST00000409285.6:c.504-49_504-48insACA	ENSP00000386612.2:n.504-49_504-48insACA
ENST00000409958.6:c.504-49_504-48insACA	ENSP00000387069.2:n.504-49_504-48insACA
ENST00000429762.7:c.504-49_504-48insACA	ENSP00000401690.3:n.504-49_504-48insACA
ENST00000444511.6:c.504-49_504-48insACA	ENSP00000387720.2:n.504-49_504-48insACA
NM_001256271.1:c.504-49_504-48insACA	NP_001243200.1:n.504-49_504-48insACA
NM_001256272.1:c.504-49_504-48insACA	NP_001243201.1:n.504-49_504-48insACA
NM_014588.5:c.504-49_504-48insACA	NP_055403.2:n.504-49_504-48insACA
NM_199425.2:c.504-49_504-48insACA	NP_955457.1:n.504-49_504-48insACA
NR_045948.1:n.787-49_787-48insACA
NR_045951.1:n.787-49_787-48insACA
XM_017027837.1:c.504-49_504-48insACA	XP_016883326.1:n.504-49_504-48insACA
XM_017027838.1:c.504-49_504-48insACA	XP_016883327.1:n.504-49_504-48insACA
NM_014588.6:c.504-49_504-48insACA MANE Select	NP_055403.2:n.504-49_504-48insACA
NR_165181.1:n.262-49_262-48insACA
NM_001256271.2:c.504-49_504-48insACA	NP_001243200.1:n.504-49_504-48insACA
NM_001256272.2:c.504-49_504-48insACA	NP_001243201.1:n.504-49_504-48insACA
NM_199425.3:c.504-49_504-48insACA	NP_955457.1:n.504-49_504-48insACA
NR_045948.2:n.549-49_549-48insACA
NR_045951.2:n.549-49_549-48insACA
NR_165181.2:n.144-49_144-48insACA