Canonical Allele Identifier: CA432423656

Gene: VHL

Linked Data

• MyVariant Identifiers: chr3:g.10191566_10191567insC (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149882_10149883insC , CM000665.2:g.10149882_10149883insC	GRCh38
NC_000003.11:g.10191566_10191567insC , CM000665.1:g.10191566_10191567insC	GRCh37
NC_000003.10:g.10166566_10166567insC	NCBI36
NG_008212.3:g.13248_13249insC , LRG_322:g.13248_13249insC

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*236_*237insC	ENSP00000512434.1:n.*236_*237insC
ENST00000696143.1:c.695_696insC	ENSP00000512435.1:n.695_696insC
ENST00000696153.1:c.670_671insC	ENSP00000512444.1:p.Asp224AlafsTer?
ENST00000256474.3:c.559_560insC MANE Select	ENSP00000256474.3:p.Asp187AlafsTer?
ENST00000256474.2:c.559_560insC	ENSP00000256474.2:p.Asp187AlafsTer?
ENST00000345392.2:c.436_437insC	ENSP00000344757.2:p.Asp146AlafsTer?
ENST00000477538.1:n.695_696insC
NM_000551.3:c.559_560insC , LRG_322t1:c.559_560insC	NP_000542.1:p.Asp187AlafsTer?
NM_198156.2:c.436_437insC	NP_937799.1:p.Asp146AlafsTer?
NM_001354723.1:c.*113_*114insC	NP_001341652.1:n.*113_*114insC
NM_000551.4:c.559_560insC MANE Select	NP_000542.1:p.Asp187AlafsTer?
NM_001354723.2:c.*113_*114insC	NP_001341652.1:n.*113_*114insC
NM_198156.3:c.436_437insC	NP_937799.1:p.Asp146AlafsTer?