Canonical Allele Identifier: CA1345063362

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10150170_10150171delinsGC , CM000665.2:g.10150170_10150171delinsGC	GRCh38
NC_000003.11:g.10191854_10191855delinsGC , CM000665.1:g.10191854_10191855delinsGC	GRCh37
NC_000003.10:g.10166854_10166855delinsGC	NCBI36
NG_008212.3:g.13536_13537delinsGC , LRG_322:g.13536_13537delinsGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*524_*525delinsGC	ENSP00000512434.1:n.*524_*525delinsGC
ENST00000696143.1:c.983_984delinsGC	ENSP00000512435.1:n.983_984delinsGC
ENST00000696153.1:c.*205_*206delinsGC	ENSP00000512444.1:n.*205_*206delinsGC
ENST00000256474.3:c.*205_*206delinsGC MANE Select	ENSP00000256474.3:n.*205_*206delinsGC
ENST00000256474.2:c.*205_*206delinsGC	ENSP00000256474.2:n.*205_*206delinsGC
ENST00000345392.2:c.*205_*206delinsGC	ENSP00000344757.2:n.*205_*206delinsGC
NM_000551.3:c.*205_*206delinsGC , LRG_322t1:c.*205_*206delinsGC	NP_000542.1:n.*205_*206delinsGC
NM_198156.2:c.*205_*206delinsGC	NP_937799.1:n.*205_*206delinsGC
NM_001354723.1:c.*401_*402delinsGC	NP_001341652.1:n.*401_*402delinsGC
NM_000551.4:c.*205_*206delinsGC MANE Select	NP_000542.1:n.*205_*206delinsGC
NM_001354723.2:c.*401_*402delinsGC	NP_001341652.1:n.*401_*402delinsGC
NM_198156.3:c.*205_*206delinsGC	NP_937799.1:n.*205_*206delinsGC