Canonical Allele Identifier: CA1345063548

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10150340_10150343delinsACAT , CM000665.2:g.10150340_10150343delinsACAT	GRCh38
NC_000003.11:g.10192024_10192027delinsACAT , CM000665.1:g.10192024_10192027delinsACAT	GRCh37
NC_000003.10:g.10167024_10167027delinsACAT	NCBI36
NG_008212.3:g.13706_13709delinsACAT , LRG_322:g.13706_13709delinsACAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*694_*697delinsACAT	ENSP00000512434.1:n.*694_*697delinsACAT
ENST00000696143.1:c.1153_1156delinsACAT	ENSP00000512435.1:n.1153_1156delinsACAT
ENST00000696153.1:c.*375_*378delinsACAT	ENSP00000512444.1:n.*375_*378delinsACAT
ENST00000256474.3:c.*375_*378delinsACAT MANE Select	ENSP00000256474.3:n.*375_*378delinsACAT
ENST00000256474.2:c.*375_*378delinsACAT	ENSP00000256474.2:n.*375_*378delinsACAT
ENST00000345392.2:c.*375_*378delinsACAT	ENSP00000344757.2:n.*375_*378delinsACAT
NM_000551.3:c.*375_*378delinsACAT , LRG_322t1:c.*375_*378delinsACAT	NP_000542.1:n.*375_*378delinsACAT
NM_198156.2:c.*375_*378delinsACAT	NP_937799.1:n.*375_*378delinsACAT
NM_001354723.1:c.*571_*574delinsACAT	NP_001341652.1:n.*571_*574delinsACAT
NM_000551.4:c.*375_*378delinsACAT MANE Select	NP_000542.1:n.*375_*378delinsACAT
NM_001354723.2:c.*571_*574delinsACAT	NP_001341652.1:n.*571_*574delinsACAT
NM_198156.3:c.*375_*378delinsACAT	NP_937799.1:n.*375_*378delinsACAT