Canonical Allele Identifier: CA645524920

Gene: VHL

Linked Data

• COSMIC: COSM30352

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146560_10146561delinsAT , CM000665.2:g.10146560_10146561delinsAT	GRCh38
NC_000003.11:g.10188244_10188245delinsAT , CM000665.1:g.10188244_10188245delinsAT	GRCh37
NC_000003.10:g.10163244_10163245delinsAT	NCBI36
NG_008212.3:g.9926_9927delinsAT , LRG_322:g.9926_9927delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*64_*65delinsAT	ENSP00000512434.1:n.*64_*65delinsAT
ENST00000696143.1:c.600-3227_600-3226delinsAT	ENSP00000512435.1:n.600-3227_600-3226delinsAT
ENST00000696153.1:c.387_388delinsAT	ENSP00000512444.1:p.Val130Phe
ENST00000256474.3:c.387_388delinsAT MANE Select	ENSP00000256474.3:p.Val130Phe
ENST00000256474.2:c.387_388delinsAT	ENSP00000256474.2:p.Val130Phe
ENST00000345392.2:c.341-3227_341-3226delinsAT	ENSP00000344757.2:n.341-3227_341-3226delinsAT
ENST00000477538.1:n.523_524delinsAT
NM_000551.3:c.387_388delinsAT , LRG_322t1:c.387_388delinsAT	NP_000542.1:p.Val130Phe
NM_198156.2:c.341-3227_341-3226delinsAT	NP_937799.1:n.341-3227_341-3226delinsAT
XM_011534078.1:c.*64_*65delinsAT	XP_011532380.1:n.*64_*65delinsAT
NM_001354723.1:c.*18-3227_*18-3226delinsAT	NP_001341652.1:n.*18-3227_*18-3226delinsAT
NM_000551.4:c.387_388delinsAT MANE Select	NP_000542.1:p.Val130Phe
NM_001354723.2:c.*18-3227_*18-3226delinsAT	NP_001341652.1:n.*18-3227_*18-3226delinsAT
NM_198156.3:c.341-3227_341-3226delinsAT	NP_937799.1:n.341-3227_341-3226delinsAT