Canonical Allele Identifier: CA1345065506

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10152793_10152796delinsTTTA , CM000665.2:g.10152793_10152796delinsTTTA	GRCh38
NC_000003.11:g.10194477_10194480delinsTTTA , CM000665.1:g.10194477_10194480delinsTTTA	GRCh37
NC_000003.10:g.10169477_10169480delinsTTTA	NCBI36
NG_008212.3:g.16159_16162delinsTTTA , LRG_322:g.16159_16162delinsTTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696153.1:c.*2828_*2831delinsTTTA	ENSP00000512444.1:n.*2828_*2831delinsTTTA
ENST00000256474.3:c.*2828_*2831delinsTTTA MANE Select	ENSP00000256474.3:n.*2828_*2831delinsTTTA
NM_000551.3:c.*2828_*2831delinsTTTA , LRG_322t1:c.*2828_*2831delinsTTTA	NP_000542.1:n.*2828_*2831delinsTTTA
NM_198156.2:c.*2828_*2831delinsTTTA	NP_937799.1:n.*2828_*2831delinsTTTA
NM_001354723.1:c.*3024_*3027delinsTTTA	NP_001341652.1:n.*3024_*3027delinsTTTA
NM_000551.4:c.*2828_*2831delinsTTTA MANE Select	NP_000542.1:n.*2828_*2831delinsTTTA
NM_001354723.2:c.*3024_*3027delinsTTTA	NP_001341652.1:n.*3024_*3027delinsTTTA
NM_198156.3:c.*2828_*2831delinsTTTA	NP_937799.1:n.*2828_*2831delinsTTTA