Canonical Allele Identifier: CA432421882
Gene: VHL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10146596_10146597insA , CM000665.2:g.10146596_10146597insA GRCh38
NC_000003.11:g.10188280_10188281insA , CM000665.1:g.10188280_10188281insA GRCh37
NC_000003.10:g.10163280_10163281insA NCBI36
NG_008212.3:g.9962_9963insA , LRG_322:g.9962_9963insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000696142.1:c.*100_*101insA ENSP00000512434.1:n.*100_*101insA
ENST00000696143.1:c.600-3191_600-3190insA ENSP00000512435.1:n.600-3191_600-3190insA
ENST00000696153.1:c.423_424insA ENSP00000512444.1:p.Val142SerfsTer2
ENST00000256474.3:c.423_424insA MANE Select ENSP00000256474.3:p.Val142SerfsTer2
ENST00000256474.2:c.423_424insA ENSP00000256474.2:p.Val142SerfsTer2
ENST00000345392.2:c.341-3191_341-3190insA ENSP00000344757.2:n.341-3191_341-3190insA
ENST00000477538.1:n.559_560insA
NM_000551.3:c.423_424insA , LRG_322t1:c.423_424insA NP_000542.1:p.Val142SerfsTer2
NM_198156.2:c.341-3191_341-3190insA NP_937799.1:n.341-3191_341-3190insA
XM_011534078.1:c.*100_*101insA XP_011532380.1:n.*100_*101insA
NM_001354723.1:c.*18-3191_*18-3190insA NP_001341652.1:n.*18-3191_*18-3190insA
NM_000551.4:c.423_424insA MANE Select NP_000542.1:p.Val142SerfsTer2
NM_001354723.2:c.*18-3191_*18-3190insA NP_001341652.1:n.*18-3191_*18-3190insA
NM_198156.3:c.341-3191_341-3190insA NP_937799.1:n.341-3191_341-3190insA