Canonical Allele Identifier: CA2695197743

Gene: VHL

Linked Data

• ClinVar Variation Id: 2674431
• ClinVar RCV Id: RCV003452626

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149878_10149880del , CM000665.2:g.10149878_10149880del	GRCh38
NC_000003.11:g.10191562_10191564del , CM000665.1:g.10191562_10191564del	GRCh37
NC_000003.10:g.10166562_10166564del	NCBI36
NG_008212.3:g.13244_13246del , LRG_322:g.13244_13246del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*232_*234del	ENSP00000512434.1:n.*232_*234del
ENST00000696143.1:c.691_693del	ENSP00000512435.1:n.691_693del
ENST00000696153.1:c.666_668del	ENSP00000512444.1:p.Tyr222Ter
ENST00000256474.3:c.555_557del MANE Select	ENSP00000256474.3:p.Tyr185Ter
ENST00000256474.2:c.555_557del	ENSP00000256474.2:p.Tyr185Ter
ENST00000345392.2:c.432_434del	ENSP00000344757.2:p.Tyr144Ter
ENST00000477538.1:n.691_693del
NM_000551.3:c.555_557del , LRG_322t1:c.555_557del	NP_000542.1:p.Tyr185Ter
NM_198156.2:c.432_434del	NP_937799.1:p.Tyr144Ter
NM_001354723.1:c.*109_*111del	NP_001341652.1:n.*109_*111del
NM_000551.4:c.555_557del MANE Select	NP_000542.1:p.Tyr185Ter
NM_001354723.2:c.*109_*111del	NP_001341652.1:n.*109_*111del
NM_198156.3:c.432_434del	NP_937799.1:p.Tyr144Ter