Canonical Allele Identifier: CA2830774018

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10148588_10148590del , CM000665.2:g.10148588_10148590del	GRCh38
NC_000003.11:g.10190272_10190274del , CM000665.1:g.10190272_10190274del	GRCh37
NC_000003.10:g.10165272_10165274del	NCBI36
NG_008212.3:g.11954_11956del , LRG_322:g.11954_11956del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*141-1199_*141-1197del	ENSP00000512434.1:n.*141-1199_*141-1197del
ENST00000696143.1:c.600-1199_600-1197del	ENSP00000512435.1:n.600-1199_600-1197del
ENST00000696153.1:c.464-116_464-114del	ENSP00000512444.1:n.464-116_464-114del
ENST00000256474.3:c.464-1199_464-1197del MANE Select	ENSP00000256474.3:n.464-1199_464-1197del
ENST00000256474.2:c.464-1199_464-1197del	ENSP00000256474.2:n.464-1199_464-1197del
ENST00000345392.2:c.341-1199_341-1197del	ENSP00000344757.2:n.341-1199_341-1197del
ENST00000477538.1:n.600-1199_600-1197del
NM_000551.3:c.464-1199_464-1197del , LRG_322t1:c.464-1199_464-1197del	NP_000542.1:n.464-1199_464-1197del
NM_198156.2:c.341-1199_341-1197del	NP_937799.1:n.341-1199_341-1197del
NM_001354723.1:c.*18-1199_*18-1197del	NP_001341652.1:n.*18-1199_*18-1197del
NM_000551.4:c.464-1199_464-1197del MANE Select	NP_000542.1:n.464-1199_464-1197del
NM_001354723.2:c.*18-1199_*18-1197del	NP_001341652.1:n.*18-1199_*18-1197del
NM_198156.3:c.341-1199_341-1197del	NP_937799.1:n.341-1199_341-1197del