Canonical Allele Identifier: CA1345065462
Gene: VHL HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10152721_10152722delinsAC , CM000665.2:g.10152721_10152722delinsAC GRCh38
NC_000003.11:g.10194405_10194406delinsAC , CM000665.1:g.10194405_10194406delinsAC GRCh37
NC_000003.10:g.10169405_10169406delinsAC NCBI36
NG_008212.3:g.16087_16088delinsAC , LRG_322:g.16087_16088delinsAC

Transcript Alleles

HGVS Amino-acid change
ENST00000696153.1:c.*2756_*2757delinsAC ENSP00000512444.1:n.*2756_*2757delinsAC
ENST00000256474.3:c.*2756_*2757delinsAC MANE Select ENSP00000256474.3:n.*2756_*2757delinsAC
NM_000551.3:c.*2756_*2757delinsAC , LRG_322t1:c.*2756_*2757delinsAC NP_000542.1:n.*2756_*2757delinsAC
NM_198156.2:c.*2756_*2757delinsAC NP_937799.1:n.*2756_*2757delinsAC
NM_001354723.1:c.*2952_*2953delinsAC NP_001341652.1:n.*2952_*2953delinsAC
NM_000551.4:c.*2756_*2757delinsAC MANE Select NP_000542.1:n.*2756_*2757delinsAC
NM_001354723.2:c.*2952_*2953delinsAC NP_001341652.1:n.*2952_*2953delinsAC
NM_198156.3:c.*2756_*2757delinsAC NP_937799.1:n.*2756_*2757delinsAC
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