Canonical Allele Identifier: CA1345059186

Gene: VHL

Linked Data

• dbSNP Id: rs1696273698
• gnomAD v3: 3-10146889-TTAGTTTTG-T
• gnomAD v4: 3-10146889-TTAGTTTTG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146893_10146900del , CM000665.2:g.10146893_10146900del	GRCh38
NC_000003.11:g.10188577_10188584del , CM000665.1:g.10188577_10188584del	GRCh37
NC_000003.10:g.10163577_10163584del	NCBI36
NG_008212.3:g.10259_10266del , LRG_322:g.10259_10266del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*140+257_*140+264del	ENSP00000512434.1:n.*140+257_*140+264del
ENST00000696143.1:c.600-2894_600-2887del	ENSP00000512435.1:n.600-2894_600-2887del
ENST00000696153.1:c.463+257_463+264del	ENSP00000512444.1:n.463+257_463+264del
ENST00000256474.3:c.463+257_463+264del MANE Select	ENSP00000256474.3:n.463+257_463+264del
ENST00000256474.2:c.463+257_463+264del	ENSP00000256474.2:n.463+257_463+264del
ENST00000345392.2:c.341-2894_341-2887del	ENSP00000344757.2:n.341-2894_341-2887del
ENST00000477538.1:n.599+257_599+264del
NM_000551.3:c.463+257_463+264del , LRG_322t1:c.463+257_463+264del	NP_000542.1:n.463+257_463+264del
NM_198156.2:c.341-2894_341-2887del	NP_937799.1:n.341-2894_341-2887del
NM_001354723.1:c.*18-2894_*18-2887del	NP_001341652.1:n.*18-2894_*18-2887del
NM_000551.4:c.463+257_463+264del MANE Select	NP_000542.1:n.463+257_463+264del
NM_001354723.2:c.*18-2894_*18-2887del	NP_001341652.1:n.*18-2894_*18-2887del
NM_198156.3:c.341-2894_341-2887del	NP_937799.1:n.341-2894_341-2887del