Canonical Allele Identifier: CA645524709

Gene: VHL

Linked Data

• COSMIC: COSM17712

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142062_10142106del , CM000665.2:g.10142062_10142106del	GRCh38
NC_000003.11:g.10183746_10183790del , CM000665.1:g.10183746_10183790del	GRCh37
NC_000003.10:g.10158746_10158790del	NCBI36
NG_008212.3:g.5428_5472del , LRG_322:g.5428_5472del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.215_259del	ENSP00000512434.1:p.Ser72_Val87delinsLeu
ENST00000696143.1:c.215_259del	ENSP00000512435.1:p.Ser72_Val87delinsLeu
ENST00000696153.1:c.215_259del	ENSP00000512444.1:p.Ser72_Val87delinsLeu
ENST00000256474.3:c.215_259del MANE Select	ENSP00000256474.3:p.Ser72_Val87delinsLeu
ENST00000256474.2:c.215_259del	ENSP00000256474.2:p.Ser72_Val87delinsLeu
ENST00000345392.2:c.215_259del	ENSP00000344757.2:p.Ser72_Val87delinsLeu
NM_000551.3:c.215_259del , LRG_322t1:c.215_259del	NP_000542.1:p.Ser72_Val87delinsLeu
NM_198156.2:c.215_259del	NP_937799.1:p.Ser72_Val87delinsLeu
XM_011534078.1:c.215_259del	XP_011532380.1:p.Ser72_Val87delinsLeu
NM_001354723.1:c.215_259del	NP_001341652.1:p.Ser72_Val87delinsLeu
NM_000551.4:c.215_259del MANE Select	NP_000542.1:p.Ser72_Val87delinsLeu
NM_001354723.2:c.215_259del	NP_001341652.1:p.Ser72_Val87delinsLeu
NM_198156.3:c.215_259del	NP_937799.1:p.Ser72_Val87delinsLeu