Canonical Allele Identifier: CA2573051315

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149843_10149844dup , CM000665.2:g.10149843_10149844dup	GRCh38
NC_000003.11:g.10191527_10191528dup , CM000665.1:g.10191527_10191528dup	GRCh37
NC_000003.10:g.10166527_10166528dup	NCBI36
NG_008212.3:g.13209_13210dup , LRG_322:g.13209_13210dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*197_*198dup	ENSP00000512434.1:n.*197_*198dup
ENST00000696143.1:c.656_657dup	ENSP00000512435.1:n.656_657dup
ENST00000696153.1:c.631_632dup	ENSP00000512444.1:p.Asn211LysfsTer29
ENST00000256474.3:c.520_521dup MANE Select	ENSP00000256474.3:p.Asn174LysfsTer29
ENST00000256474.2:c.520_521dup	ENSP00000256474.2:p.Asn174LysfsTer29
ENST00000345392.2:c.397_398dup	ENSP00000344757.2:p.Asn133LysfsTer29
ENST00000477538.1:n.656_657dup
NM_000551.3:c.520_521dup , LRG_322t1:c.520_521dup	NP_000542.1:p.Asn174LysfsTer29
NM_198156.2:c.397_398dup	NP_937799.1:p.Asn133LysfsTer29
NM_001354723.1:c.*74_*75dup	NP_001341652.1:n.*74_*75dup
NM_000551.4:c.520_521dup MANE Select	NP_000542.1:p.Asn174LysfsTer29
NM_001354723.2:c.*74_*75dup	NP_001341652.1:n.*74_*75dup
NM_198156.3:c.397_398dup	NP_937799.1:p.Asn133LysfsTer29