Canonical Allele Identifier: CA645524696

Gene: VHL

Linked Data

• COSMIC: COSM14324

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142050_10142051delinsAA , CM000665.2:g.10142050_10142051delinsAA	GRCh38
NC_000003.11:g.10183734_10183735delinsAA , CM000665.1:g.10183734_10183735delinsAA	GRCh37
NC_000003.10:g.10158734_10158735delinsAA	NCBI36
NG_008212.3:g.5416_5417delinsAA , LRG_322:g.5416_5417delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.203_204delinsAA	ENSP00000512434.1:p.Ser68Ter
ENST00000696143.1:c.203_204delinsAA	ENSP00000512435.1:p.Ser68Ter
ENST00000696153.1:c.203_204delinsAA	ENSP00000512444.1:p.Ser68Ter
ENST00000256474.3:c.203_204delinsAA MANE Select	ENSP00000256474.3:p.Ser68Ter
ENST00000256474.2:c.203_204delinsAA	ENSP00000256474.2:p.Ser68Ter
ENST00000345392.2:c.203_204delinsAA	ENSP00000344757.2:p.Ser68Ter
NM_000551.3:c.203_204delinsAA , LRG_322t1:c.203_204delinsAA	NP_000542.1:p.Ser68Ter
NM_198156.2:c.203_204delinsAA	NP_937799.1:p.Ser68Ter
XM_011534078.1:c.203_204delinsAA	XP_011532380.1:p.Ser68Ter
NM_001354723.1:c.203_204delinsAA	NP_001341652.1:p.Ser68Ter
NM_000551.4:c.203_204delinsAA MANE Select	NP_000542.1:p.Ser68Ter
NM_001354723.2:c.203_204delinsAA	NP_001341652.1:p.Ser68Ter
NM_198156.3:c.203_204delinsAA	NP_937799.1:p.Ser68Ter