Canonical Allele Identifier: CA1345065869

Gene: VHL

Linked Data

• dbSNP Id: rs1696463062

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10153303_10153304insTAAAAAAAGTTA , CM000665.2:g.10153303_10153304insTAAAAAAAGTTA	GRCh38
NC_000003.11:g.10194987_10194988insTAAAAAAAGTTA , CM000665.1:g.10194987_10194988insTAAAAAAAGTTA	GRCh37
NC_000003.10:g.10169987_10169988insTAAAAAAAGTTA	NCBI36
NG_008212.3:g.16669_16670insTAAAAAAAGTTA , LRG_322:g.16669_16670insTAAAAAAAGTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696153.1:c.*3338_*3339insTAAAAAAAGTTA	ENSP00000512444.1:n.*3338_*3339insTAAAAAAAGTTA
ENST00000256474.3:c.*3338_*3339insTAAAAAAAGTTA MANE Select	ENSP00000256474.3:n.*3338_*3339insTAAAAAAAGTTA
NM_000551.3:c.*3338_*3339insTAAAAAAAGTTA , LRG_322t1:c.*3338_*3339insTAAAAAAAGTTA	NP_000542.1:n.*3338_*3339insTAAAAAAAGTTA
NM_198156.2:c.*3338_*3339insTAAAAAAAGTTA	NP_937799.1:n.*3338_*3339insTAAAAAAAGTTA
NM_001354723.1:c.*3534_*3535insTAAAAAAAGTTA	NP_001341652.1:n.*3534_*3535insTAAAAAAAGTTA
NM_000551.4:c.*3338_*3339insTAAAAAAAGTTA MANE Select	NP_000542.1:n.*3338_*3339insTAAAAAAAGTTA
NM_001354723.2:c.*3534_*3535insTAAAAAAAGTTA	NP_001341652.1:n.*3534_*3535insTAAAAAAAGTTA
NM_198156.3:c.*3338_*3339insTAAAAAAAGTTA	NP_937799.1:n.*3338_*3339insTAAAAAAAGTTA