Canonical Allele Identifier: CA1345065254

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10152479_10152481delinsGTC , CM000665.2:g.10152479_10152481delinsGTC	GRCh38
NC_000003.11:g.10194163_10194165delinsGTC , CM000665.1:g.10194163_10194165delinsGTC	GRCh37
NC_000003.10:g.10169163_10169165delinsGTC	NCBI36
NG_008212.3:g.15845_15847delinsGTC , LRG_322:g.15845_15847delinsGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696153.1:c.*2514_*2516delinsGTC	ENSP00000512444.1:n.*2514_*2516delinsGTC
ENST00000256474.3:c.*2514_*2516delinsGTC MANE Select	ENSP00000256474.3:n.*2514_*2516delinsGTC
NM_000551.3:c.*2514_*2516delinsGTC , LRG_322t1:c.*2514_*2516delinsGTC	NP_000542.1:n.*2514_*2516delinsGTC
NM_198156.2:c.*2514_*2516delinsGTC	NP_937799.1:n.*2514_*2516delinsGTC
NM_001354723.1:c.*2710_*2712delinsGTC	NP_001341652.1:n.*2710_*2712delinsGTC
NM_000551.4:c.*2514_*2516delinsGTC MANE Select	NP_000542.1:n.*2514_*2516delinsGTC
NM_001354723.2:c.*2710_*2712delinsGTC	NP_001341652.1:n.*2710_*2712delinsGTC
NM_198156.3:c.*2514_*2516delinsGTC	NP_937799.1:n.*2514_*2516delinsGTC