Canonical Allele Identifier: CA1345068570

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10144315_10144325delinsAAAAATTCTTG , CM000665.2:g.10144315_10144325delinsAAAAATTCTTG	GRCh38
NC_000003.11:g.10185999_10186009delinsAAAAATTCTTG , CM000665.1:g.10185999_10186009delinsAAAAATTCTTG	GRCh37
NC_000003.10:g.10160999_10161009delinsAAAAATTCTTG	NCBI36
NG_008212.3:g.7681_7691delinsAAAAATTCTTG , LRG_322:g.7681_7691delinsAAAAATTCTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*17+1294_*17+1304delinsAAAAATTCTTG	ENSP00000512434.1:n.*17+1294_*17+1304delinsAAAAATTCTTG
ENST00000696143.1:c.599+1294_599+1304delinsAAAAATTCTTG	ENSP00000512435.1:n.599+1294_599+1304delinsAAAAATTCTTG
ENST00000696153.1:c.340+2128_340+2138delinsAAAAATTCTTG	ENSP00000512444.1:n.340+2128_340+2138delinsAAAAATTCTTG
ENST00000256474.3:c.340+2128_340+2138delinsAAAAATTCTTG MANE Select	ENSP00000256474.3:n.340+2128_340+2138delinsAAAAATTCTTG
ENST00000256474.2:c.340+2128_340+2138delinsAAAAATTCTTG	ENSP00000256474.2:n.340+2128_340+2138delinsAAAAATTCTTG
ENST00000345392.2:c.340+2128_340+2138delinsAAAAATTCTTG	ENSP00000344757.2:n.340+2128_340+2138delinsAAAAATTCTTG
ENST00000477538.1:n.476+1294_476+1304delinsAAAAATTCTTG
NM_000551.3:c.340+2128_340+2138delinsAAAAATTCTTG , LRG_322t1:c.340+2128_340+2138delinsAAAAATTCTTG	NP_000542.1:n.340+2128_340+2138delinsAAAAATTCTTG
NM_198156.2:c.340+2128_340+2138delinsAAAAATTCTTG	NP_937799.1:n.340+2128_340+2138delinsAAAAATTCTTG
XM_011534078.1:c.*17+1294_*17+1304delinsAAAAATTCTTG	XP_011532380.1:n.*17+1294_*17+1304delinsAAAAATTCTTG
NM_001354723.1:c.*17+1294_*17+1304delinsAAAAATTCTTG	NP_001341652.1:n.*17+1294_*17+1304delinsAAAAATTCTTG
NM_000551.4:c.340+2128_340+2138delinsAAAAATTCTTG MANE Select	NP_000542.1:n.340+2128_340+2138delinsAAAAATTCTTG
NM_001354723.2:c.*17+1294_*17+1304delinsAAAAATTCTTG	NP_001341652.1:n.*17+1294_*17+1304delinsAAAAATTCTTG
NM_198156.3:c.340+2128_340+2138delinsAAAAATTCTTG	NP_937799.1:n.340+2128_340+2138delinsAAAAATTCTTG