Canonical Allele Identifier: CA1345058779

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146604_10146611delinsGACAGCCT , CM000665.2:g.10146604_10146611delinsGACAGCCT	GRCh38
NC_000003.11:g.10188288_10188295delinsGACAGCCT , CM000665.1:g.10188288_10188295delinsGACAGCCT	GRCh37
NC_000003.10:g.10163288_10163295delinsGACAGCCT	NCBI36
NG_008212.3:g.9970_9977delinsGACAGCCT , LRG_322:g.9970_9977delinsGACAGCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*108_*115delinsGACAGCCT	ENSP00000512434.1:n.*108_*115delinsGACAGCCT
ENST00000696143.1:c.600-3183_600-3176delinsGACAGCCT	ENSP00000512435.1:n.600-3183_600-3176delinsGACAGCCT
ENST00000696153.1:c.431_438delinsGACAGCCT	ENSP00000512444.1:p.Gly144=
ENST00000256474.3:c.431_438delinsGACAGCCT MANE Select	ENSP00000256474.3:p.Gly144=
ENST00000256474.2:c.431_438delinsGACAGCCT	ENSP00000256474.2:p.Gly144=
ENST00000345392.2:c.341-3183_341-3176delinsGACAGCCT	ENSP00000344757.2:n.341-3183_341-3176delinsGACAGCCT
ENST00000477538.1:n.567_574delinsGACAGCCT
NM_000551.3:c.431_438delinsGACAGCCT , LRG_322t1:c.431_438delinsGACAGCCT	NP_000542.1:p.Gly144=
NM_198156.2:c.341-3183_341-3176delinsGACAGCCT	NP_937799.1:n.341-3183_341-3176delinsGACAGCCT
NM_001354723.1:c.*18-3183_*18-3176delinsGACAGCCT	NP_001341652.1:n.*18-3183_*18-3176delinsGACAGCCT
NM_000551.4:c.431_438delinsGACAGCCT MANE Select	NP_000542.1:p.Gly144=
NM_001354723.2:c.*18-3183_*18-3176delinsGACAGCCT	NP_001341652.1:n.*18-3183_*18-3176delinsGACAGCCT
NM_198156.3:c.341-3183_341-3176delinsGACAGCCT	NP_937799.1:n.341-3183_341-3176delinsGACAGCCT