Canonical Allele Identifier: CA432421901

Gene: VHL

Linked Data

• MyVariant Identifiers: chr3:g.10188301_10188302insC (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146617_10146618insC , CM000665.2:g.10146617_10146618insC	GRCh38
NC_000003.11:g.10188301_10188302insC , CM000665.1:g.10188301_10188302insC	GRCh37
NC_000003.10:g.10163301_10163302insC	NCBI36
NG_008212.3:g.9983_9984insC , LRG_322:g.9983_9984insC

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*121_*122insC	ENSP00000512434.1:n.*121_*122insC
ENST00000696143.1:c.600-3170_600-3169insC	ENSP00000512435.1:n.600-3170_600-3169insC...
ENST00000696153.1:c.444_445insC	ENSP00000512444.1:p.Ala149ArgfsTer?
ENST00000256474.3:c.444_445insC MANE Select	ENSP00000256474.3:p.Ala149ArgfsTer25
ENST00000256474.2:c.444_445insC	ENSP00000256474.2:p.Ala149ArgfsTer25
ENST00000345392.2:c.341-3170_341-3169insC	ENSP00000344757.2:n.341-3170_341-3169insC...
ENST00000477538.1:n.580_581insC
NM_000551.3:c.444_445insC , LRG_322t1:c.444_445insC	NP_000542.1:p.Ala149ArgfsTer25
NM_198156.2:c.341-3170_341-3169insC	NP_937799.1:n.341-3170_341-3169insC
NM_001354723.1:c.*18-3170_*18-3169insC	NP_001341652.1:n.*18-3170_*18-3169insC
NM_000551.4:c.444_445insC MANE Select	NP_000542.1:p.Ala149ArgfsTer25
NM_001354723.2:c.*18-3170_*18-3169insC	NP_001341652.1:n.*18-3170_*18-3169insC
NM_198156.3:c.341-3170_341-3169insC	NP_937799.1:n.341-3170_341-3169insC