Canonical Allele Identifier: CA541213519

Gene: VHL

Linked Data

• dbSNP Id: rs1353460356
• gnomAD v2: 3-10183614-ACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTC-A
• gnomAD v4: 3-10141930-ACGGCGGGGAGGAGTCGGGCGCCGAGGAGTCCGGCCCGGAAGAGTC-A
• MyVariant Identifiers: chr3:g.10183615_10183659del (hg19) ; chr3:g.10141931_10141975del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10141935_10141979del , CM000665.2:g.10141935_10141979del	GRCh38
NC_000003.11:g.10183619_10183663del , CM000665.1:g.10183619_10183663del	GRCh37
NC_000003.10:g.10158619_10158663del	NCBI36
NG_008212.3:g.5301_5345del , LRG_322:g.5301_5345del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.88_132del	ENSP00000512434.1:p.Gly30_Gly44del
ENST00000696143.1:c.88_132del	ENSP00000512435.1:p.Gly30_Gly44del
ENST00000696153.1:c.88_132del	ENSP00000512444.1:p.Gly30_Gly44del
ENST00000256474.3:c.88_132del MANE Select	ENSP00000256474.3:p.Gly30_Gly44del
ENST00000256474.2:c.88_132del	ENSP00000256474.2:p.Gly30_Gly44del
ENST00000345392.2:c.88_132del	ENSP00000344757.2:p.Gly30_Gly44del
NM_000551.3:c.88_132del , LRG_322t1:c.88_132del	NP_000542.1:p.Gly30_Gly44del
NM_198156.2:c.88_132del	NP_937799.1:p.Gly30_Gly44del
XM_011534078.1:c.88_132del	XP_011532380.1:p.Gly30_Gly44del
NM_001354723.1:c.88_132del	NP_001341652.1:p.Gly30_Gly44del
NM_000551.4:c.88_132del MANE Select	NP_000542.1:p.Gly30_Gly44del
NM_001354723.2:c.88_132del	NP_001341652.1:p.Gly30_Gly44del
NM_198156.3:c.88_132del	NP_937799.1:p.Gly30_Gly44del