Canonical Allele Identifier: CA432421819

Gene: VHL

Linked Data

• COSMIC: COSM4189185
• MyVariant Identifiers: chr3:g.10188231_10188232insT (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146547_10146548insT , CM000665.2:g.10146547_10146548insT	GRCh38
NC_000003.11:g.10188231_10188232insT , CM000665.1:g.10188231_10188232insT	GRCh37
NC_000003.10:g.10163231_10163232insT	NCBI36
NG_008212.3:g.9913_9914insT , LRG_322:g.9913_9914insT

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*51_*52insT	ENSP00000512434.1:n.*51_*52insT
ENST00000696143.1:c.600-3240_600-3239insT	ENSP00000512435.1:n.600-3240_600-3239insT...
ENST00000696153.1:c.374_375insT	ENSP00000512444.1:p.Asp126ArgfsTer6
ENST00000256474.3:c.374_375insT MANE Select	ENSP00000256474.3:p.Asp126ArgfsTer6
ENST00000256474.2:c.374_375insT	ENSP00000256474.2:p.Asp126ArgfsTer6
ENST00000345392.2:c.341-3240_341-3239insT	ENSP00000344757.2:n.341-3240_341-3239insT...
ENST00000477538.1:n.510_511insT
NM_000551.3:c.374_375insT , LRG_322t1:c.374_375insT	NP_000542.1:p.Asp126ArgfsTer6
NM_198156.2:c.341-3240_341-3239insT	NP_937799.1:n.341-3240_341-3239insT
XM_011534078.1:c.*51_*52insT	XP_011532380.1:n.*51_*52insT
NM_001354723.1:c.*18-3240_*18-3239insT	NP_001341652.1:n.*18-3240_*18-3239insT
NM_000551.4:c.374_375insT MANE Select	NP_000542.1:p.Asp126ArgfsTer6
NM_001354723.2:c.*18-3240_*18-3239insT	NP_001341652.1:n.*18-3240_*18-3239insT
NM_198156.3:c.341-3240_341-3239insT	NP_937799.1:n.341-3240_341-3239insT