Canonical Allele Identifier: CA2664399906

Gene: VHL

Linked Data

• gnomAD v4: 3-10141959-TCCGGCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10141961_10141966del , CM000665.2:g.10141961_10141966del	GRCh38
NC_000003.11:g.10183645_10183650del , CM000665.1:g.10183645_10183650del	GRCh37
NC_000003.10:g.10158645_10158650del	NCBI36
NG_008212.3:g.5327_5332del , LRG_322:g.5327_5332del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.114_119del	ENSP00000512434.1:p.Gly39_Pro40del
ENST00000696143.1:c.114_119del	ENSP00000512435.1:p.Gly39_Pro40del
ENST00000696153.1:c.114_119del	ENSP00000512444.1:p.Gly39_Pro40del
ENST00000256474.3:c.114_119del MANE Select	ENSP00000256474.3:p.Gly39_Pro40del
ENST00000256474.2:c.114_119del	ENSP00000256474.2:p.Gly39_Pro40del
ENST00000345392.2:c.114_119del	ENSP00000344757.2:p.Gly39_Pro40del
NM_000551.3:c.114_119del , LRG_322t1:c.114_119del	NP_000542.1:p.Gly39_Pro40del
NM_198156.2:c.114_119del	NP_937799.1:p.Gly39_Pro40del
XM_011534078.1:c.114_119del	XP_011532380.1:p.Gly39_Pro40del
NM_001354723.1:c.114_119del	NP_001341652.1:p.Gly39_Pro40del
NM_000551.4:c.114_119del MANE Select	NP_000542.1:p.Gly39_Pro40del
NM_001354723.2:c.114_119del	NP_001341652.1:p.Gly39_Pro40del
NM_198156.3:c.114_119del	NP_937799.1:p.Gly39_Pro40del