Canonical Allele Identifier: CA1345059188

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146892_10146893delinsGT , CM000665.2:g.10146892_10146893delinsGT	GRCh38
NC_000003.11:g.10188576_10188577delinsGT , CM000665.1:g.10188576_10188577delinsGT	GRCh37
NC_000003.10:g.10163576_10163577delinsGT	NCBI36
NG_008212.3:g.10258_10259delinsGT , LRG_322:g.10258_10259delinsGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*140+256_*140+257delinsGT	ENSP00000512434.1:n.*140+256_*140+257delinsGT
ENST00000696143.1:c.600-2895_600-2894delinsGT	ENSP00000512435.1:n.600-2895_600-2894delinsGT
ENST00000696153.1:c.463+256_463+257delinsGT	ENSP00000512444.1:n.463+256_463+257delinsGT
ENST00000256474.3:c.463+256_463+257delinsGT MANE Select	ENSP00000256474.3:n.463+256_463+257delinsGT
ENST00000256474.2:c.463+256_463+257delinsGT	ENSP00000256474.2:n.463+256_463+257delinsGT
ENST00000345392.2:c.341-2895_341-2894delinsGT	ENSP00000344757.2:n.341-2895_341-2894delinsGT
ENST00000477538.1:n.599+256_599+257delinsGT
NM_000551.3:c.463+256_463+257delinsGT , LRG_322t1:c.463+256_463+257delinsGT	NP_000542.1:n.463+256_463+257delinsGT
NM_198156.2:c.341-2895_341-2894delinsGT	NP_937799.1:n.341-2895_341-2894delinsGT
NM_001354723.1:c.*18-2895_*18-2894delinsGT	NP_001341652.1:n.*18-2895_*18-2894delinsGT
NM_000551.4:c.463+256_463+257delinsGT MANE Select	NP_000542.1:n.463+256_463+257delinsGT
NM_001354723.2:c.*18-2895_*18-2894delinsGT	NP_001341652.1:n.*18-2895_*18-2894delinsGT
NM_198156.3:c.341-2895_341-2894delinsGT	NP_937799.1:n.341-2895_341-2894delinsGT