Canonical Allele Identifier: CA1345067865

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10143192_10143193delinsGC , CM000665.2:g.10143192_10143193delinsGC	GRCh38
NC_000003.11:g.10184876_10184877delinsGC , CM000665.1:g.10184876_10184877delinsGC	GRCh37
NC_000003.10:g.10159876_10159877delinsGC	NCBI36
NG_008212.3:g.6558_6559delinsGC , LRG_322:g.6558_6559delinsGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*17+171_*17+172delinsGC	ENSP00000512434.1:n.*17+171_*17+172delins...
ENST00000696143.1:c.599+171_599+172delinsGC	ENSP00000512435.1:n.599+171_599+172delins...
ENST00000696153.1:c.340+1005_340+1006delinsGC	ENSP00000512444.1:n.340+1005_340+1006deli...
ENST00000256474.3:c.340+1005_340+1006delinsGC MANE Select	ENSP00000256474.3:n.340+1005_340+1006deli...
ENST00000256474.2:c.340+1005_340+1006delinsGC	ENSP00000256474.2:n.340+1005_340+1006deli...
ENST00000345392.2:c.340+1005_340+1006delinsGC	ENSP00000344757.2:n.340+1005_340+1006deli...
ENST00000477538.1:n.476+171_476+172delinsGC
NM_000551.3:c.340+1005_340+1006delinsGC , LRG_322t1:c.340+1005_340+1006delinsGC	NP_000542.1:n.340+1005_340+1006delinsGC
NM_198156.2:c.340+1005_340+1006delinsGC	NP_937799.1:n.340+1005_340+1006delinsGC
XM_011534078.1:c.*17+171_*17+172delinsGC	XP_011532380.1:n.*17+171_*17+172delinsGC
NM_001354723.1:c.*17+171_*17+172delinsGC	NP_001341652.1:n.*17+171_*17+172delinsGC
NM_000551.4:c.340+1005_340+1006delinsGC MANE Select	NP_000542.1:n.340+1005_340+1006delinsGC
NM_001354723.2:c.*17+171_*17+172delinsGC	NP_001341652.1:n.*17+171_*17+172delinsGC
NM_198156.3:c.340+1005_340+1006delinsGC	NP_937799.1:n.340+1005_340+1006delinsGC