Canonical Allele Identifier: CA1345062510

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149855_10149857delinsCTG , CM000665.2:g.10149855_10149857delinsCTG	GRCh38
NC_000003.11:g.10191539_10191541delinsCTG , CM000665.1:g.10191539_10191541delinsCTG	GRCh37
NC_000003.10:g.10166539_10166541delinsCTG	NCBI36
NG_008212.3:g.13221_13223delinsCTG , LRG_322:g.13221_13223delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*209_*211delinsCTG	ENSP00000512434.1:n.*209_*211delinsCTG
ENST00000696143.1:c.668_670delinsCTG	ENSP00000512435.1:n.668_670delinsCTG
ENST00000696153.1:c.643_645delinsCTG	ENSP00000512444.1:p.Leu215=
ENST00000256474.3:c.532_534delinsCTG MANE Select	ENSP00000256474.3:p.Leu178=
ENST00000256474.2:c.532_534delinsCTG	ENSP00000256474.2:p.Leu178=
ENST00000345392.2:c.409_411delinsCTG	ENSP00000344757.2:p.Leu137=
ENST00000477538.1:n.668_670delinsCTG
NM_000551.3:c.532_534delinsCTG , LRG_322t1:c.532_534delinsCTG	NP_000542.1:p.Leu178=
NM_198156.2:c.409_411delinsCTG	NP_937799.1:p.Leu137=
NM_001354723.1:c.*86_*88delinsCTG	NP_001341652.1:n.*86_*88delinsCTG
NM_000551.4:c.532_534delinsCTG MANE Select	NP_000542.1:p.Leu178=
NM_001354723.2:c.*86_*88delinsCTG	NP_001341652.1:n.*86_*88delinsCTG
NM_198156.3:c.409_411delinsCTG	NP_937799.1:p.Leu137=