Canonical Allele Identifier: CA10614844

Gene: VHL

Linked Data

• ClinVar Variation Id: 342456
• ClinVar RCV Id: RCV000368915
• dbSNP Id: rs149248243
• gnomAD v2: 3-10193621-TGTAATCC-T
• gnomAD v3: 3-10151937-TGTAATCC-T
• gnomAD v4: 3-10151937-TGTAATCC-T
• MyVariant Identifiers: chr3:g.10193622_10193628del (hg19) ; chr3:g.10151938_10151944del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10151938_10151944del , CM000665.2:g.10151938_10151944del	GRCh38
NC_000003.11:g.10193622_10193628del , CM000665.1:g.10193622_10193628del	GRCh37
NC_000003.10:g.10168622_10168628del	NCBI36
NG_008212.3:g.15304_15310del , LRG_322:g.15304_15310del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696143.1:c.2751_2757del	ENSP00000512435.1:n.2751_2757del
ENST00000696153.1:c.*1973_*1979del	ENSP00000512444.1:n.*1973_*1979del
ENST00000256474.3:c.*1973_*1979del MANE Select	ENSP00000256474.3:n.*1973_*1979del
ENST00000256474.2:c.*1973_*1979del	ENSP00000256474.2:n.*1973_*1979del
ENST00000345392.2:c.*1973_*1979del	ENSP00000344757.2:n.*1973_*1979del
NM_000551.3:c.*1973_*1979del , LRG_322t1:c.*1973_*1979del	NP_000542.1:n.*1973_*1979del
NM_198156.2:c.*1973_*1979del	NP_937799.1:n.*1973_*1979del
NM_001354723.1:c.*2169_*2175del	NP_001341652.1:n.*2169_*2175del
NM_000551.4:c.*1973_*1979del MANE Select	NP_000542.1:n.*1973_*1979del
NM_001354723.2:c.*2169_*2175del	NP_001341652.1:n.*2169_*2175del
NM_198156.3:c.*1973_*1979del	NP_937799.1:n.*1973_*1979del