Canonical Allele Identifier: CA1345065296

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10152509_10152511delinsTTG , CM000665.2:g.10152509_10152511delinsTTG	GRCh38
NC_000003.11:g.10194193_10194195delinsTTG , CM000665.1:g.10194193_10194195delinsTTG	GRCh37
NC_000003.10:g.10169193_10169195delinsTTG	NCBI36
NG_008212.3:g.15875_15877delinsTTG , LRG_322:g.15875_15877delinsTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696153.1:c.*2544_*2546delinsTTG	ENSP00000512444.1:n.*2544_*2546delinsTTG
ENST00000256474.3:c.*2544_*2546delinsTTG MANE Select	ENSP00000256474.3:n.*2544_*2546delinsTTG
NM_000551.3:c.*2544_*2546delinsTTG , LRG_322t1:c.*2544_*2546delinsTTG	NP_000542.1:n.*2544_*2546delinsTTG
NM_198156.2:c.*2544_*2546delinsTTG	NP_937799.1:n.*2544_*2546delinsTTG
NM_001354723.1:c.*2740_*2742delinsTTG	NP_001341652.1:n.*2740_*2742delinsTTG
NM_000551.4:c.*2544_*2546delinsTTG MANE Select	NP_000542.1:n.*2544_*2546delinsTTG
NM_001354723.2:c.*2740_*2742delinsTTG	NP_001341652.1:n.*2740_*2742delinsTTG
NM_198156.3:c.*2544_*2546delinsTTG	NP_937799.1:n.*2544_*2546delinsTTG