Canonical Allele Identifier: CA1345059893
Gene: VHL HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10147677_10147681dup , CM000665.2:g.10147677_10147681dup GRCh38
NC_000003.11:g.10189361_10189365dup , CM000665.1:g.10189361_10189365dup GRCh37
NC_000003.10:g.10164361_10164365dup NCBI36
NG_008212.3:g.11043_11047dup , LRG_322:g.11043_11047dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000696142.1:c.*140+1041_*140+1045dup ENSP00000512434.1:n.*140+1041_*140+1045dup
ENST00000696143.1:c.600-2110_600-2106dup ENSP00000512435.1:n.600-2110_600-2106dup
ENST00000696153.1:c.464-1027_464-1023dup ENSP00000512444.1:n.464-1027_464-1023dup
ENST00000256474.3:c.463+1041_463+1045dup MANE Select ENSP00000256474.3:n.463+1041_463+1045dup
ENST00000256474.2:c.463+1041_463+1045dup ENSP00000256474.2:n.463+1041_463+1045dup
ENST00000345392.2:c.341-2110_341-2106dup ENSP00000344757.2:n.341-2110_341-2106dup
ENST00000477538.1:n.599+1041_599+1045dup
NM_000551.3:c.463+1041_463+1045dup , LRG_322t1:c.463+1041_463+1045dup NP_000542.1:n.463+1041_463+1045dup
NM_198156.2:c.341-2110_341-2106dup NP_937799.1:n.341-2110_341-2106dup
NM_001354723.1:c.*18-2110_*18-2106dup NP_001341652.1:n.*18-2110_*18-2106dup
NM_000551.4:c.463+1041_463+1045dup MANE Select NP_000542.1:n.463+1041_463+1045dup
NM_001354723.2:c.*18-2110_*18-2106dup NP_001341652.1:n.*18-2110_*18-2106dup
NM_198156.3:c.341-2110_341-2106dup NP_937799.1:n.341-2110_341-2106dup
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