Canonical Allele Identifier: CA2755195190

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10144764_10144766del , CM000665.2:g.10144764_10144766del	GRCh38
NC_000003.11:g.10186448_10186450del , CM000665.1:g.10186448_10186450del	GRCh37
NC_000003.10:g.10161448_10161450del	NCBI36
NG_008212.3:g.8130_8132del , LRG_322:g.8130_8132del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*17+1743_*17+1745del	ENSP00000512434.1:n.*17+1743_*17+1745del
ENST00000696143.1:c.599+1743_599+1745del	ENSP00000512435.1:n.599+1743_599+1745del
ENST00000696153.1:c.341-1750_341-1748del	ENSP00000512444.1:n.341-1750_341-1748del
ENST00000256474.3:c.341-1750_341-1748del MANE Select	ENSP00000256474.3:n.341-1750_341-1748del
ENST00000256474.2:c.341-1750_341-1748del	ENSP00000256474.2:n.341-1750_341-1748del
ENST00000345392.2:c.340+2577_340+2579del	ENSP00000344757.2:n.340+2577_340+2579del
ENST00000477538.1:n.476+1743_476+1745del
NM_000551.3:c.341-1750_341-1748del , LRG_322t1:c.341-1750_341-1748del	NP_000542.1:n.341-1750_341-1748del
NM_198156.2:c.340+2577_340+2579del	NP_937799.1:n.340+2577_340+2579del
XM_011534078.1:c.*17+1743_*17+1745del	XP_011532380.1:n.*17+1743_*17+1745del
NM_001354723.1:c.*17+1743_*17+1745del	NP_001341652.1:n.*17+1743_*17+1745del
NM_000551.4:c.341-1750_341-1748del MANE Select	NP_000542.1:n.341-1750_341-1748del
NM_001354723.2:c.*17+1743_*17+1745del	NP_001341652.1:n.*17+1743_*17+1745del
NM_198156.3:c.340+2577_340+2579del	NP_937799.1:n.340+2577_340+2579del