Canonical Allele Identifier: CA1345069109

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10145393_10145394delinsTG , CM000665.2:g.10145393_10145394delinsTG	GRCh38
NC_000003.11:g.10187077_10187078delinsTG , CM000665.1:g.10187077_10187078delinsTG	GRCh37
NC_000003.10:g.10162077_10162078delinsTG	NCBI36
NG_008212.3:g.8759_8760delinsTG , LRG_322:g.8759_8760delinsTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*18-1121_*18-1120delinsTG	ENSP00000512434.1:n.*18-1121_*18-1120delinsTG
ENST00000696143.1:c.599+2372_599+2373delinsTG	ENSP00000512435.1:n.599+2372_599+2373delinsTG
ENST00000696153.1:c.341-1121_341-1120delinsTG	ENSP00000512444.1:n.341-1121_341-1120delinsTG
ENST00000256474.3:c.341-1121_341-1120delinsTG MANE Select	ENSP00000256474.3:n.341-1121_341-1120delinsTG
ENST00000256474.2:c.341-1121_341-1120delinsTG	ENSP00000256474.2:n.341-1121_341-1120delinsTG
ENST00000345392.2:c.340+3206_340+3207delinsTG	ENSP00000344757.2:n.340+3206_340+3207delinsTG
ENST00000477538.1:n.477-1121_477-1120delinsTG
NM_000551.3:c.341-1121_341-1120delinsTG , LRG_322t1:c.341-1121_341-1120delinsTG	NP_000542.1:n.341-1121_341-1120delinsTG
NM_198156.2:c.340+3206_340+3207delinsTG	NP_937799.1:n.340+3206_340+3207delinsTG
XM_011534078.1:c.*18-1121_*18-1120delinsTG	XP_011532380.1:n.*18-1121_*18-1120delinsTG
NM_001354723.1:c.*17+2372_*17+2373delinsTG	NP_001341652.1:n.*17+2372_*17+2373delinsTG
NM_000551.4:c.341-1121_341-1120delinsTG MANE Select	NP_000542.1:n.341-1121_341-1120delinsTG
NM_001354723.2:c.*17+2372_*17+2373delinsTG	NP_001341652.1:n.*17+2372_*17+2373delinsTG
NM_198156.3:c.340+3206_340+3207delinsTG	NP_937799.1:n.340+3206_340+3207delinsTG