Canonical Allele Identifier: CA9793740

Gene: VSX1

Linked Data

• ClinVar Variation Id: 337978
• ClinVar RCV Id: RCV000353760
• dbSNP Id: rs144366921
• ExAC: 20:25062983 GCCCACCCCAC / G
• gnomAD v2: 20-25062983-GCCCACCCCAC-G
• gnomAD v3: 20-25082347-GCCCACCCCAC-G
• gnomAD v4: 20-25082347-GCCCACCCCAC-G
• MyVariant Identifiers: chr20:g.25062984_25062993del (hg19) ; chr20:g.25082348_25082357del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.25082361_25082370del , CM000682.2:g.25082361_25082370del	GRCh38
NC_000020.10:g.25062997_25063006del , CM000682.1:g.25062997_25063006del	GRCh37
NC_000020.9:g.25010997_25011006del	NCBI36
NG_008101.1:g.4775_4784del
NG_008101.2:g.4775_4784del
NG_008101.3:g.4825_4834del

Transcript Alleles

HGVS	Amino-acid Change
NM_001256271.1:c.-261_-252del	NP_001243200.1:n.-261_-252del
NM_001256272.1:c.-261_-252del	NP_001243201.1:n.-261_-252del
NM_014588.5:c.-261_-252del	NP_055403.2:n.-261_-252del
NM_199425.2:c.-261_-252del	NP_955457.1:n.-261_-252del
NR_045948.1:n.23_32del
NR_045951.1:n.23_32del