Canonical Allele Identifier: CA432423630
Gene: VHL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10149877_10149878insG , CM000665.2:g.10149877_10149878insG GRCh38
NC_000003.11:g.10191561_10191562insG , CM000665.1:g.10191561_10191562insG GRCh37
NC_000003.10:g.10166561_10166562insG NCBI36
NG_008212.3:g.13243_13244insG , LRG_322:g.13243_13244insG

Transcript Alleles

HGVS Amino-acid Change
ENST00000696142.1:c.*231_*232insG ENSP00000512434.1:n.*231_*232insG
ENST00000696143.1:c.690_691insG ENSP00000512435.1:n.690_691insG
ENST00000696153.1:c.665_666insG ENSP00000512444.1:p.Tyr222Ter
ENST00000256474.3:c.554_555insG MANE Select ENSP00000256474.3:p.Tyr185Ter
ENST00000256474.2:c.554_555insG ENSP00000256474.2:p.Tyr185Ter
ENST00000345392.2:c.431_432insG ENSP00000344757.2:p.Tyr144Ter
ENST00000477538.1:n.690_691insG
NM_000551.3:c.554_555insG , LRG_322t1:c.554_555insG NP_000542.1:p.Tyr185Ter
NM_198156.2:c.431_432insG NP_937799.1:p.Tyr144Ter
NM_001354723.1:c.*108_*109insG NP_001341652.1:n.*108_*109insG
NM_000551.4:c.554_555insG MANE Select NP_000542.1:p.Tyr185Ter
NM_001354723.2:c.*108_*109insG NP_001341652.1:n.*108_*109insG
NM_198156.3:c.431_432insG NP_937799.1:p.Tyr144Ter