Canonical Allele Identifier: CA2664400060
Gene: VHL HGNC NCBI

Linked Data

gnomAD v4: 3-10149726-T-TGTTC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10149731_10149734dup , CM000665.2:g.10149731_10149734dup GRCh38
NC_000003.11:g.10191415_10191418dup , CM000665.1:g.10191415_10191418dup GRCh37
NC_000003.10:g.10166415_10166418dup NCBI36
NG_008212.3:g.13097_13100dup , LRG_322:g.13097_13100dup

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.*141-56_*141-53dup ENSP00000512434.1:n.*141-56_*141-53dup
ENST00000696143.1:c.600-56_600-53dup ENSP00000512435.1:n.600-56_600-53dup
ENST00000696153.1:c.575-56_575-53dup ENSP00000512444.1:n.575-56_575-53dup
ENST00000256474.3:c.464-56_464-53dup MANE Select ENSP00000256474.3:n.464-56_464-53dup
ENST00000256474.2:c.464-56_464-53dup ENSP00000256474.2:n.464-56_464-53dup
ENST00000345392.2:c.341-56_341-53dup ENSP00000344757.2:n.341-56_341-53dup
ENST00000477538.1:n.600-56_600-53dup
NM_000551.3:c.464-56_464-53dup , LRG_322t1:c.464-56_464-53dup NP_000542.1:n.464-56_464-53dup
NM_198156.2:c.341-56_341-53dup NP_937799.1:n.341-56_341-53dup
NM_001354723.1:c.*18-56_*18-53dup NP_001341652.1:n.*18-56_*18-53dup
NM_000551.4:c.464-56_464-53dup MANE Select NP_000542.1:n.464-56_464-53dup
NM_001354723.2:c.*18-56_*18-53dup NP_001341652.1:n.*18-56_*18-53dup
NM_198156.3:c.341-56_341-53dup NP_937799.1:n.341-56_341-53dup
Search 100 bp 5'
Search 100 bp 3'