Canonical Allele Identifier: CA2702130633

Gene: VHL

Linked Data

• dbSNP Id: rs2125130721

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149895_10149897del , CM000665.2:g.10149895_10149897del	GRCh38
NC_000003.11:g.10191579_10191581del , CM000665.1:g.10191579_10191581del	GRCh37
NC_000003.10:g.10166579_10166581del	NCBI36
NG_008212.3:g.13261_13263del , LRG_322:g.13261_13263del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*249_*251del	ENSP00000512434.1:n.*249_*251del
ENST00000696143.1:c.708_710del	ENSP00000512435.1:n.708_710del
ENST00000696153.1:c.683_685del	ENSP00000512444.1:p.His228del
ENST00000256474.3:c.572_574del MANE Select	ENSP00000256474.3:p.His191del
ENST00000256474.2:c.572_574del	ENSP00000256474.2:p.His191del
ENST00000345392.2:c.449_451del	ENSP00000344757.2:p.His150del
ENST00000477538.1:n.708_710del
NM_000551.3:c.572_574del , LRG_322t1:c.572_574del	NP_000542.1:p.His191del
NM_198156.2:c.449_451del	NP_937799.1:p.His150del
NM_001354723.1:c.*126_*128del	NP_001341652.1:n.*126_*128del
NM_000551.4:c.572_574del MANE Select	NP_000542.1:p.His191del
NM_001354723.2:c.*126_*128del	NP_001341652.1:n.*126_*128del
NM_198156.3:c.449_451del	NP_937799.1:p.His150del