Canonical Allele Identifier: CA658820874
Gene: VHL HGNC NCBI

Linked Data

CIViC: CA658820874
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10146537_10146538delinsAT , CM000665.2:g.10146537_10146538delinsAT GRCh38
NC_000003.11:g.10188221_10188222delinsAT , CM000665.1:g.10188221_10188222delinsAT GRCh37
NC_000003.10:g.10163221_10163222delinsAT NCBI36
NG_008212.3:g.9903_9904delinsAT , LRG_322:g.9903_9904delinsAT

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.*41_*42delinsAT ENSP00000512434.1:n.*41_*42delinsAT
ENST00000696143.1:c.600-3250_600-3249delinsAT ENSP00000512435.1:n.600-3250_600-3249deli...
ENST00000696153.1:c.364_365delinsAT ENSP00000512444.1:p.Ala122Ile
ENST00000256474.3:c.364_365delinsAT MANE Select ENSP00000256474.3:p.Ala122Ile
ENST00000256474.2:c.364_365delinsAT ENSP00000256474.2:p.Ala122Ile
ENST00000345392.2:c.341-3250_341-3249delinsAT ENSP00000344757.2:n.341-3250_341-3249deli...
ENST00000477538.1:n.500_501delinsAT
NM_000551.3:c.364_365delinsAT , LRG_322t1:c.364_365delinsAT NP_000542.1:p.Ala122Ile
NM_198156.2:c.341-3250_341-3249delinsAT NP_937799.1:n.341-3250_341-3249delinsAT
XM_011534078.1:c.*41_*42delinsAT XP_011532380.1:n.*41_*42delinsAT
NM_001354723.1:c.*18-3250_*18-3249delinsAT NP_001341652.1:n.*18-3250_*18-3249delinsA...
NM_000551.4:c.364_365delinsAT MANE Select NP_000542.1:p.Ala122Ile
NM_001354723.2:c.*18-3250_*18-3249delinsAT NP_001341652.1:n.*18-3250_*18-3249delinsA...
NM_198156.3:c.341-3250_341-3249delinsAT NP_937799.1:n.341-3250_341-3249delinsAT
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