Canonical Allele Identifier: CA645524967

Gene: VHL

Linked Data

• COSMIC: COSM14379

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146598_10146602del , CM000665.2:g.10146598_10146602del	GRCh38
NC_000003.11:g.10188282_10188286del , CM000665.1:g.10188282_10188286del	GRCh37
NC_000003.10:g.10163282_10163286del	NCBI36
NG_008212.3:g.9964_9968del , LRG_322:g.9964_9968del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*102_*106del	ENSP00000512434.1:n.*102_*106del
ENST00000696143.1:c.600-3189_600-3185del	ENSP00000512435.1:n.600-3189_600-3185del
ENST00000696153.1:c.425_429del	ENSP00000512444.1:p.Val142GlyfsTer?
ENST00000256474.3:c.425_429del MANE Select	ENSP00000256474.3:p.Val142GlyfsTer30
ENST00000256474.2:c.425_429del	ENSP00000256474.2:p.Val142GlyfsTer30
ENST00000345392.2:c.341-3189_341-3185del	ENSP00000344757.2:n.341-3189_341-3185del
ENST00000477538.1:n.561_565del
NM_000551.3:c.425_429del , LRG_322t1:c.425_429del	NP_000542.1:p.Val142GlyfsTer30
NM_198156.2:c.341-3189_341-3185del	NP_937799.1:n.341-3189_341-3185del
NM_001354723.1:c.*18-3189_*18-3185del	NP_001341652.1:n.*18-3189_*18-3185del
NM_000551.4:c.425_429del MANE Select	NP_000542.1:p.Val142GlyfsTer30
NM_001354723.2:c.*18-3189_*18-3185del	NP_001341652.1:n.*18-3189_*18-3185del
NM_198156.3:c.341-3189_341-3185del	NP_937799.1:n.341-3189_341-3185del