Canonical Allele Identifier: CA1345062239

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149805_10149806delinsGA , CM000665.2:g.10149805_10149806delinsGA	GRCh38
NC_000003.11:g.10191489_10191490delinsGA , CM000665.1:g.10191489_10191490delinsGA	GRCh37
NC_000003.10:g.10166489_10166490delinsGA	NCBI36
NG_008212.3:g.13171_13172delinsGA , LRG_322:g.13171_13172delinsGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*159_*160delinsGA	ENSP00000512434.1:n.*159_*160delinsGA
ENST00000696143.1:c.618_619delinsGA	ENSP00000512435.1:n.618_619delinsGA
ENST00000696153.1:c.593_594delinsGA	ENSP00000512444.1:p.Arg198=
ENST00000256474.3:c.482_483delinsGA MANE Select	ENSP00000256474.3:p.Arg161=
ENST00000256474.2:c.482_483delinsGA	ENSP00000256474.2:p.Arg161=
ENST00000345392.2:c.359_360delinsGA	ENSP00000344757.2:p.Arg120=
ENST00000477538.1:n.618_619delinsGA
NM_000551.3:c.482_483delinsGA , LRG_322t1:c.482_483delinsGA	NP_000542.1:p.Arg161=
NM_198156.2:c.359_360delinsGA	NP_937799.1:p.Arg120=
NM_001354723.1:c.*36_*37delinsGA	NP_001341652.1:n.*36_*37delinsGA
NM_000551.4:c.482_483delinsGA MANE Select	NP_000542.1:p.Arg161=
NM_001354723.2:c.*36_*37delinsGA	NP_001341652.1:n.*36_*37delinsGA
NM_198156.3:c.359_360delinsGA	NP_937799.1:p.Arg120=