Canonical Allele Identifier: CA432421867

Gene: VHL

Linked Data

• COSMIC: COSM18148 ; COSM253369
• MyVariant Identifiers: chr3:g.10188273_10188274insC (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146589dup , CM000665.2:g.10146589dup	GRCh38
NC_000003.11:g.10188273dup , CM000665.1:g.10188273dup	GRCh37
NC_000003.10:g.10163273dup	NCBI36
NG_008212.3:g.9955dup , LRG_322:g.9955dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*93dup	ENSP00000512434.1:n.*93dup
ENST00000696143.1:c.600-3198dup	ENSP00000512435.1:n.600-3198dup
ENST00000696153.1:c.416dup	ENSP00000512444.1:p.Leu140SerfsTer4
ENST00000256474.3:c.416dup MANE Select	ENSP00000256474.3:p.Leu140SerfsTer4
ENST00000256474.2:c.416dup	ENSP00000256474.2:p.Leu140SerfsTer4
ENST00000345392.2:c.341-3198dup	ENSP00000344757.2:n.341-3198dup
ENST00000477538.1:n.552dup
NM_000551.3:c.416dup , LRG_322t1:c.416dup	NP_000542.1:p.Leu140SerfsTer4
NM_198156.2:c.341-3198dup	NP_937799.1:n.341-3198dup
XM_011534078.1:c.*93dup	XP_011532380.1:n.*93dup
NM_001354723.1:c.*18-3198dup	NP_001341652.1:n.*18-3198dup
NM_000551.4:c.416dup MANE Select	NP_000542.1:p.Leu140SerfsTer4
NM_001354723.2:c.*18-3198dup	NP_001341652.1:n.*18-3198dup
NM_198156.3:c.341-3198dup	NP_937799.1:n.341-3198dup