Canonical Allele Identifier: CA2755195285

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146995_10146996del , CM000665.2:g.10146995_10146996del	GRCh38
NC_000003.11:g.10188679_10188680del , CM000665.1:g.10188679_10188680del	GRCh37
NC_000003.10:g.10163679_10163680del	NCBI36
NG_008212.3:g.10361_10362del , LRG_322:g.10361_10362del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*140+359_*140+360del	ENSP00000512434.1:n.*140+359_*140+360del
ENST00000696143.1:c.600-2792_600-2791del	ENSP00000512435.1:n.600-2792_600-2791del
ENST00000696153.1:c.463+359_463+360del	ENSP00000512444.1:n.463+359_463+360del
ENST00000256474.3:c.463+359_463+360del MANE Select	ENSP00000256474.3:n.463+359_463+360del
ENST00000256474.2:c.463+359_463+360del	ENSP00000256474.2:n.463+359_463+360del
ENST00000345392.2:c.341-2792_341-2791del	ENSP00000344757.2:n.341-2792_341-2791del
ENST00000477538.1:n.599+359_599+360del
NM_000551.3:c.463+359_463+360del , LRG_322t1:c.463+359_463+360del	NP_000542.1:n.463+359_463+360del
NM_198156.2:c.341-2792_341-2791del	NP_937799.1:n.341-2792_341-2791del
NM_001354723.1:c.*18-2792_*18-2791del	NP_001341652.1:n.*18-2792_*18-2791del
NM_000551.4:c.463+359_463+360del MANE Select	NP_000542.1:n.463+359_463+360del
NM_001354723.2:c.*18-2792_*18-2791del	NP_001341652.1:n.*18-2792_*18-2791del
NM_198156.3:c.341-2792_341-2791del	NP_937799.1:n.341-2792_341-2791del