Canonical Allele Identifier: CA432421877
Gene: VHL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10146594_10146595insC , CM000665.2:g.10146594_10146595insC GRCh38
NC_000003.11:g.10188278_10188279insC , CM000665.1:g.10188278_10188279insC GRCh37
NC_000003.10:g.10163278_10163279insC NCBI36
NG_008212.3:g.9960_9961insC , LRG_322:g.9960_9961insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000696142.1:c.*98_*99insC ENSP00000512434.1:n.*98_*99insC
ENST00000696143.1:c.600-3193_600-3192insC ENSP00000512435.1:n.600-3193_600-3192insC
ENST00000696153.1:c.421_422insC ENSP00000512444.1:p.Asn141ThrfsTer3
ENST00000256474.3:c.421_422insC MANE Select ENSP00000256474.3:p.Asn141ThrfsTer3
ENST00000256474.2:c.421_422insC ENSP00000256474.2:p.Asn141ThrfsTer3
ENST00000345392.2:c.341-3193_341-3192insC ENSP00000344757.2:n.341-3193_341-3192insC
ENST00000477538.1:n.557_558insC
NM_000551.3:c.421_422insC , LRG_322t1:c.421_422insC NP_000542.1:p.Asn141ThrfsTer3
NM_198156.2:c.341-3193_341-3192insC NP_937799.1:n.341-3193_341-3192insC
XM_011534078.1:c.*98_*99insC XP_011532380.1:n.*98_*99insC
NM_001354723.1:c.*18-3193_*18-3192insC NP_001341652.1:n.*18-3193_*18-3192insC
NM_000551.4:c.421_422insC MANE Select NP_000542.1:p.Asn141ThrfsTer3
NM_001354723.2:c.*18-3193_*18-3192insC NP_001341652.1:n.*18-3193_*18-3192insC
NM_198156.3:c.341-3193_341-3192insC NP_937799.1:n.341-3193_341-3192insC