Canonical Allele Identifier: CA432423112
Gene: VHL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10149797_10149798insT , CM000665.2:g.10149797_10149798insT GRCh38
NC_000003.11:g.10191481_10191482insT , CM000665.1:g.10191481_10191482insT GRCh37
NC_000003.10:g.10166481_10166482insT NCBI36
NG_008212.3:g.13163_13164insT , LRG_322:g.13163_13164insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000696142.1:c.*151_*152insT ENSP00000512434.1:n.*151_*152insT
ENST00000696143.1:c.610_611insT ENSP00000512435.1:n.610_611insT
ENST00000696153.1:c.585_586insT ENSP00000512444.1:p.Lys196Ter
ENST00000256474.3:c.474_475insT MANE Select ENSP00000256474.3:p.Lys159Ter
ENST00000256474.2:c.474_475insT ENSP00000256474.2:p.Lys159Ter
ENST00000345392.2:c.351_352insT ENSP00000344757.2:p.Lys118Ter
ENST00000477538.1:n.610_611insT
NM_000551.3:c.474_475insT , LRG_322t1:c.474_475insT NP_000542.1:p.Lys159Ter
NM_198156.2:c.351_352insT NP_937799.1:p.Lys118Ter
NM_001354723.1:c.*28_*29insT NP_001341652.1:n.*28_*29insT
NM_000551.4:c.474_475insT MANE Select NP_000542.1:p.Lys159Ter
NM_001354723.2:c.*28_*29insT NP_001341652.1:n.*28_*29insT
NM_198156.3:c.351_352insT NP_937799.1:p.Lys118Ter