Canonical Allele Identifier: CA896168380
Gene: VHL HGNC NCBI

Linked Data

dbSNP Id: rs1159583859

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10153169_10153172dup , CM000665.2:g.10153169_10153172dup GRCh38
NC_000003.11:g.10194853_10194856dup , CM000665.1:g.10194853_10194856dup GRCh37
NC_000003.10:g.10169853_10169856dup NCBI36
NG_008212.3:g.16535_16538dup , LRG_322:g.16535_16538dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000696153.1:c.*3204_*3207dup ENSP00000512444.1:n.*3204_*3207dup
ENST00000256474.3:c.*3204_*3207dup MANE Select ENSP00000256474.3:n.*3204_*3207dup
NM_000551.3:c.*3204_*3207dup , LRG_322t1:c.*3204_*3207dup NP_000542.1:n.*3204_*3207dup
NM_198156.2:c.*3204_*3207dup NP_937799.1:n.*3204_*3207dup
NM_001354723.1:c.*3400_*3403dup NP_001341652.1:n.*3400_*3403dup
NM_000551.4:c.*3204_*3207dup MANE Select NP_000542.1:n.*3204_*3207dup
NM_001354723.2:c.*3400_*3403dup NP_001341652.1:n.*3400_*3403dup
NM_198156.3:c.*3204_*3207dup NP_937799.1:n.*3204_*3207dup