Canonical Allele Identifier: CA2573131771

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146625_10146626insA , CM000665.2:g.10146625_10146626insA	GRCh38
NC_000003.11:g.10188309_10188310insA , CM000665.1:g.10188309_10188310insA	GRCh37
NC_000003.10:g.10163309_10163310insA	NCBI36
NG_008212.3:g.9991_9992insA , LRG_322:g.9991_9992insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*129_*130insA	ENSP00000512434.1:n.*129_*130insA
ENST00000696143.1:c.600-3162_600-3161insA	ENSP00000512435.1:n.600-3162_600-3161insA
ENST00000696153.1:c.452_453insA	ENSP00000512444.1:p.Thr152HisfsTer?
ENST00000256474.3:c.452_453insA MANE Select	ENSP00000256474.3:p.Thr152HisfsTer22
ENST00000256474.2:c.452_453insA	ENSP00000256474.2:p.Thr152HisfsTer22
ENST00000345392.2:c.341-3162_341-3161insA	ENSP00000344757.2:n.341-3162_341-3161insA
ENST00000477538.1:n.588_589insA
NM_000551.3:c.452_453insA , LRG_322t1:c.452_453insA	NP_000542.1:p.Thr152HisfsTer22
NM_198156.2:c.341-3162_341-3161insA	NP_937799.1:n.341-3162_341-3161insA
NM_001354723.1:c.*18-3162_*18-3161insA	NP_001341652.1:n.*18-3162_*18-3161insA
NM_000551.4:c.452_453insA MANE Select	NP_000542.1:p.Thr152HisfsTer22
NM_001354723.2:c.*18-3162_*18-3161insA	NP_001341652.1:n.*18-3162_*18-3161insA
NM_198156.3:c.341-3162_341-3161insA	NP_937799.1:n.341-3162_341-3161insA