Canonical Allele Identifier: CA645524930

Gene: VHL

Linked Data

• COSMIC: COSM18354

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146569_10146570del , CM000665.2:g.10146569_10146570del	GRCh38
NC_000003.11:g.10188253_10188254del , CM000665.1:g.10188253_10188254del	GRCh37
NC_000003.10:g.10163253_10163254del	NCBI36
NG_008212.3:g.9935_9936del , LRG_322:g.9935_9936del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*73_*74del	ENSP00000512434.1:n.*73_*74del
ENST00000696143.1:c.600-3218_600-3217del	ENSP00000512435.1:n.600-3218_600-3217del
ENST00000696153.1:c.396_397del	ENSP00000512444.1:p.Gln132HisfsTer2
ENST00000256474.3:c.396_397del MANE Select	ENSP00000256474.3:p.Gln132HisfsTer2
ENST00000256474.2:c.396_397del	ENSP00000256474.2:p.Gln132HisfsTer2
ENST00000345392.2:c.341-3218_341-3217del	ENSP00000344757.2:n.341-3218_341-3217del
ENST00000477538.1:n.532_533del
NM_000551.3:c.396_397del , LRG_322t1:c.396_397del	NP_000542.1:p.Gln132HisfsTer2
NM_198156.2:c.341-3218_341-3217del	NP_937799.1:n.341-3218_341-3217del
XM_011534078.1:c.*73_*74del	XP_011532380.1:n.*73_*74del
NM_001354723.1:c.*18-3218_*18-3217del	NP_001341652.1:n.*18-3218_*18-3217del
NM_000551.4:c.396_397del MANE Select	NP_000542.1:p.Gln132HisfsTer2
NM_001354723.2:c.*18-3218_*18-3217del	NP_001341652.1:n.*18-3218_*18-3217del
NM_198156.3:c.341-3218_341-3217del	NP_937799.1:n.341-3218_341-3217del