Canonical Allele Identifier: CA2664399858

Gene: VHL

Linked Data

• gnomAD v4: 3-10141787-CCCCGCGTCCGACCCGCGGAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10141794_10141813del , CM000665.2:g.10141794_10141813del	GRCh38
NC_000003.11:g.10183478_10183497del , CM000665.1:g.10183478_10183497del	GRCh37
NC_000003.10:g.10158478_10158497del	NCBI36
NG_008212.3:g.5160_5179del , LRG_322:g.5160_5179del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.-54_-35del	ENSP00000512434.1:n.-54_-35del
ENST00000696153.1:c.-54_-35del	ENSP00000512444.1:n.-54_-35del
ENST00000256474.3:c.-54_-35del MANE Select	ENSP00000256474.3:n.-54_-35del
ENST00000256474.2:c.-54_-35del	ENSP00000256474.2:n.-54_-35del
ENST00000345392.2:c.-54_-35del	ENSP00000344757.2:n.-54_-35del
NM_000551.3:c.-54_-35del , LRG_322t1:c.-54_-35del	NP_000542.1:n.-54_-35del
NM_198156.2:c.-54_-35del	NP_937799.1:n.-54_-35del
XM_011534078.1:c.-54_-35del	XP_011532380.1:n.-54_-35del
NM_001354723.1:c.-54_-35del	NP_001341652.1:n.-54_-35del
NM_000551.4:c.-54_-35del MANE Select	NP_000542.1:n.-54_-35del
NM_001354723.2:c.-54_-35del	NP_001341652.1:n.-54_-35del
NM_198156.3:c.-54_-35del	NP_937799.1:n.-54_-35del