Canonical Allele Identifier: CA1345058764

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146602_10146603delinsCG , CM000665.2:g.10146602_10146603delinsCG	GRCh38
NC_000003.11:g.10188286_10188287delinsCG , CM000665.1:g.10188286_10188287delinsCG	GRCh37
NC_000003.10:g.10163286_10163287delinsCG	NCBI36
NG_008212.3:g.9968_9969delinsCG , LRG_322:g.9968_9969delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*106_*107delinsCG	ENSP00000512434.1:n.*106_*107delinsCG
ENST00000696143.1:c.600-3185_600-3184delinsCG	ENSP00000512435.1:n.600-3185_600-3184delinsCG
ENST00000696153.1:c.429_430delinsCG	ENSP00000512444.1:p.Asp143=
ENST00000256474.3:c.429_430delinsCG MANE Select	ENSP00000256474.3:p.Asp143=
ENST00000256474.2:c.429_430delinsCG	ENSP00000256474.2:p.Asp143=
ENST00000345392.2:c.341-3185_341-3184delinsCG	ENSP00000344757.2:n.341-3185_341-3184delinsCG
ENST00000477538.1:n.565_566delinsCG
NM_000551.3:c.429_430delinsCG , LRG_322t1:c.429_430delinsCG	NP_000542.1:p.Asp143=
NM_198156.2:c.341-3185_341-3184delinsCG	NP_937799.1:n.341-3185_341-3184delinsCG
NM_001354723.1:c.*18-3185_*18-3184delinsCG	NP_001341652.1:n.*18-3185_*18-3184delinsCG
NM_000551.4:c.429_430delinsCG MANE Select	NP_000542.1:p.Asp143=
NM_001354723.2:c.*18-3185_*18-3184delinsCG	NP_001341652.1:n.*18-3185_*18-3184delinsCG
NM_198156.3:c.341-3185_341-3184delinsCG	NP_937799.1:n.341-3185_341-3184delinsCG