Canonical Allele Identifier: CA645524834
Gene: VHL HGNC NCBI

Linked Data

COSMIC: COSM17641

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10142155_10142159del , CM000665.2:g.10142155_10142159del GRCh38
NC_000003.11:g.10183839_10183843del , CM000665.1:g.10183839_10183843del GRCh37
NC_000003.10:g.10158839_10158843del NCBI36
NG_008212.3:g.5521_5525del , LRG_322:g.5521_5525del

Transcript Alleles

HGVS Amino-acid Change
ENST00000696142.1:c.308_312del ENSP00000512434.1:p.Pro103HisfsTer?
ENST00000696143.1:c.308_312del ENSP00000512435.1:p.Pro103HisfsTer?
ENST00000696153.1:c.308_312del ENSP00000512444.1:p.Pro103HisfsTer27
ENST00000256474.3:c.308_312del MANE Select ENSP00000256474.3:p.Pro103HisfsTer27
ENST00000256474.2:c.308_312del ENSP00000256474.2:p.Pro103HisfsTer27
ENST00000345392.2:c.308_312del ENSP00000344757.2:p.Pro103HisfsTer28
NM_000551.3:c.308_312del , LRG_322t1:c.308_312del NP_000542.1:p.Pro103HisfsTer27
NM_198156.2:c.308_312del NP_937799.1:p.Pro103HisfsTer28
XM_011534078.1:c.308_312del XP_011532380.1:p.Pro103HisfsTer?
NM_001354723.1:c.308_312del NP_001341652.1:p.Pro103HisfsTer?
NM_000551.4:c.308_312del MANE Select NP_000542.1:p.Pro103HisfsTer27
NM_001354723.2:c.308_312del NP_001341652.1:p.Pro103HisfsTer?
NM_198156.3:c.308_312del NP_937799.1:p.Pro103HisfsTer28