Canonical Allele Identifier: CA1345062542

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149862_10149866delinsTCGTC , CM000665.2:g.10149862_10149866delinsTCGTC	GRCh38
NC_000003.11:g.10191546_10191550delinsTCGTC , CM000665.1:g.10191546_10191550delinsTCGTC	GRCh37
NC_000003.10:g.10166546_10166550delinsTCGTC	NCBI36
NG_008212.3:g.13228_13232delinsTCGTC , LRG_322:g.13228_13232delinsTCGTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*216_*220delinsTCGTC	ENSP00000512434.1:n.*216_*220delinsTCGTC
ENST00000696143.1:c.675_679delinsTCGTC	ENSP00000512435.1:n.675_679delinsTCGTC
ENST00000696153.1:c.650_654delinsTCGTC	ENSP00000512444.1:p.Ile217=
ENST00000256474.3:c.539_543delinsTCGTC MANE Select	ENSP00000256474.3:p.Ile180=
ENST00000256474.2:c.539_543delinsTCGTC	ENSP00000256474.2:p.Ile180=
ENST00000345392.2:c.416_420delinsTCGTC	ENSP00000344757.2:p.Ile139=
ENST00000477538.1:n.675_679delinsTCGTC
NM_000551.3:c.539_543delinsTCGTC , LRG_322t1:c.539_543delinsTCGTC	NP_000542.1:p.Ile180=
NM_198156.2:c.416_420delinsTCGTC	NP_937799.1:p.Ile139=
NM_001354723.1:c.*93_*97delinsTCGTC	NP_001341652.1:n.*93_*97delinsTCGTC
NM_000551.4:c.539_543delinsTCGTC MANE Select	NP_000542.1:p.Ile180=
NM_001354723.2:c.*93_*97delinsTCGTC	NP_001341652.1:n.*93_*97delinsTCGTC
NM_198156.3:c.416_420delinsTCGTC	NP_937799.1:p.Ile139=