Canonical Allele Identifier: CA432423353

Gene: VHL

Linked Data

• MyVariant Identifiers: chr3:g.10191517_10191518insA (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149835dup , CM000665.2:g.10149835dup	GRCh38
NC_000003.11:g.10191519dup , CM000665.1:g.10191519dup	GRCh37
NC_000003.10:g.10166519dup	NCBI36
NG_008212.3:g.13201dup , LRG_322:g.13201dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*189dup	ENSP00000512434.1:n.*189dup
ENST00000696143.1:c.648dup	ENSP00000512435.1:n.648dup
ENST00000696153.1:c.623dup	ENSP00000512444.1:p.Pro209AlafsTer2
ENST00000256474.3:c.512dup MANE Select	ENSP00000256474.3:p.Pro172AlafsTer2
ENST00000256474.2:c.512dup	ENSP00000256474.2:p.Pro172AlafsTer2
ENST00000345392.2:c.389dup	ENSP00000344757.2:p.Pro131AlafsTer2
ENST00000477538.1:n.648dup
NM_000551.3:c.512dup , LRG_322t1:c.512dup	NP_000542.1:p.Pro172AlafsTer2
NM_198156.2:c.389dup	NP_937799.1:p.Pro131AlafsTer2
NM_001354723.1:c.*66dup	NP_001341652.1:n.*66dup
NM_000551.4:c.512dup MANE Select	NP_000542.1:p.Pro172AlafsTer2
NM_001354723.2:c.*66dup	NP_001341652.1:n.*66dup
NM_198156.3:c.389dup	NP_937799.1:p.Pro131AlafsTer2