Canonical Allele Identifier: CA1345060728

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10148439_10148440delinsCA , CM000665.2:g.10148439_10148440delinsCA	GRCh38
NC_000003.11:g.10190123_10190124delinsCA , CM000665.1:g.10190123_10190124delinsCA	GRCh37
NC_000003.10:g.10165123_10165124delinsCA	NCBI36
NG_008212.3:g.11805_11806delinsCA , LRG_322:g.11805_11806delinsCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*141-1348_*141-1347delinsCA	ENSP00000512434.1:n.*141-1348_*141-1347de...
ENST00000696143.1:c.600-1348_600-1347delinsCA	ENSP00000512435.1:n.600-1348_600-1347deli...
ENST00000696153.1:c.464-265_464-264delinsCA	ENSP00000512444.1:n.464-265_464-264delins...
ENST00000256474.3:c.464-1348_464-1347delinsCA MANE Select	ENSP00000256474.3:n.464-1348_464-1347deli...
ENST00000256474.2:c.464-1348_464-1347delinsCA	ENSP00000256474.2:n.464-1348_464-1347deli...
ENST00000345392.2:c.341-1348_341-1347delinsCA	ENSP00000344757.2:n.341-1348_341-1347deli...
ENST00000477538.1:n.600-1348_600-1347delinsCA
NM_000551.3:c.464-1348_464-1347delinsCA , LRG_322t1:c.464-1348_464-1347delinsCA	NP_000542.1:n.464-1348_464-1347delinsCA
NM_198156.2:c.341-1348_341-1347delinsCA	NP_937799.1:n.341-1348_341-1347delinsCA
NM_001354723.1:c.*18-1348_*18-1347delinsCA	NP_001341652.1:n.*18-1348_*18-1347delinsC...
NM_000551.4:c.464-1348_464-1347delinsCA MANE Select	NP_000542.1:n.464-1348_464-1347delinsCA
NM_001354723.2:c.*18-1348_*18-1347delinsCA	NP_001341652.1:n.*18-1348_*18-1347delinsC...
NM_198156.3:c.341-1348_341-1347delinsCA	NP_937799.1:n.341-1348_341-1347delinsCA