Canonical Allele Identifier: CA432423709

Gene: VHL

Linked Data

• MyVariant Identifiers: chr3:g.10191576_10191577insG (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149892_10149893insG , CM000665.2:g.10149892_10149893insG	GRCh38
NC_000003.11:g.10191576_10191577insG , CM000665.1:g.10191576_10191577insG	GRCh37
NC_000003.10:g.10166576_10166577insG	NCBI36
NG_008212.3:g.13258_13259insG , LRG_322:g.13258_13259insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*246_*247insG	ENSP00000512434.1:n.*246_*247insG
ENST00000696143.1:c.705_706insG	ENSP00000512435.1:n.705_706insG
ENST00000696153.1:c.680_681insG	ENSP00000512444.1:p.Asp227GlufsTer?
ENST00000256474.3:c.569_570insG MANE Select	ENSP00000256474.3:p.Asp190GlufsTer?
ENST00000256474.2:c.569_570insG	ENSP00000256474.2:p.Asp190GlufsTer?
ENST00000345392.2:c.446_447insG	ENSP00000344757.2:p.Asp149GlufsTer?
ENST00000477538.1:n.705_706insG
NM_000551.3:c.569_570insG , LRG_322t1:c.569_570insG	NP_000542.1:p.Asp190GlufsTer?
NM_198156.2:c.446_447insG	NP_937799.1:p.Asp149GlufsTer?
NM_001354723.1:c.*123_*124insG	NP_001341652.1:n.*123_*124insG
NM_000551.4:c.569_570insG MANE Select	NP_000542.1:p.Asp190GlufsTer?
NM_001354723.2:c.*123_*124insG	NP_001341652.1:n.*123_*124insG
NM_198156.3:c.446_447insG	NP_937799.1:p.Asp149GlufsTer?