Canonical Allele Identifier: CA1345060808

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10148503_10148504delinsAC , CM000665.2:g.10148503_10148504delinsAC	GRCh38
NC_000003.11:g.10190187_10190188delinsAC , CM000665.1:g.10190187_10190188delinsAC	GRCh37
NC_000003.10:g.10165187_10165188delinsAC	NCBI36
NG_008212.3:g.11869_11870delinsAC , LRG_322:g.11869_11870delinsAC

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*141-1284_*141-1283delinsAC	ENSP00000512434.1:n.*141-1284_*141-1283delinsAC
ENST00000696143.1:c.600-1284_600-1283delinsAC	ENSP00000512435.1:n.600-1284_600-1283delinsAC
ENST00000696153.1:c.464-201_464-200delinsAC	ENSP00000512444.1:n.464-201_464-200delinsAC
ENST00000256474.3:c.464-1284_464-1283delinsAC MANE Select	ENSP00000256474.3:n.464-1284_464-1283delinsAC
ENST00000256474.2:c.464-1284_464-1283delinsAC	ENSP00000256474.2:n.464-1284_464-1283delinsAC
ENST00000345392.2:c.341-1284_341-1283delinsAC	ENSP00000344757.2:n.341-1284_341-1283delinsAC
ENST00000477538.1:n.600-1284_600-1283delinsAC
NM_000551.3:c.464-1284_464-1283delinsAC , LRG_322t1:c.464-1284_464-1283delinsAC	NP_000542.1:n.464-1284_464-1283delinsAC
NM_198156.2:c.341-1284_341-1283delinsAC	NP_937799.1:n.341-1284_341-1283delinsAC
NM_001354723.1:c.*18-1284_*18-1283delinsAC	NP_001341652.1:n.*18-1284_*18-1283delinsAC
NM_000551.4:c.464-1284_464-1283delinsAC MANE Select	NP_000542.1:n.464-1284_464-1283delinsAC
NM_001354723.2:c.*18-1284_*18-1283delinsAC	NP_001341652.1:n.*18-1284_*18-1283delinsAC
NM_198156.3:c.341-1284_341-1283delinsAC	NP_937799.1:n.341-1284_341-1283delinsAC