Canonical Allele Identifier: CA1345066898

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142534_10142535delinsCG , CM000665.2:g.10142534_10142535delinsCG	GRCh38
NC_000003.11:g.10184218_10184219delinsCG , CM000665.1:g.10184218_10184219delinsCG	GRCh37
NC_000003.10:g.10159218_10159219delinsCG	NCBI36
NG_008212.3:g.5900_5901delinsCG , LRG_322:g.5900_5901delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.341-229_341-228delinsCG	ENSP00000512434.1:n.341-229_341-228delinsCG
ENST00000696143.1:c.341-229_341-228delinsCG	ENSP00000512435.1:n.341-229_341-228delinsCG
ENST00000696153.1:c.340+347_340+348delinsCG	ENSP00000512444.1:n.340+347_340+348delinsCG
ENST00000256474.3:c.340+347_340+348delinsCG MANE Select	ENSP00000256474.3:n.340+347_340+348delinsCG
ENST00000256474.2:c.340+347_340+348delinsCG	ENSP00000256474.2:n.340+347_340+348delinsCG
ENST00000345392.2:c.340+347_340+348delinsCG	ENSP00000344757.2:n.340+347_340+348delinsCG
NM_000551.3:c.340+347_340+348delinsCG , LRG_322t1:c.340+347_340+348delinsCG	NP_000542.1:n.340+347_340+348delinsCG
NM_198156.2:c.340+347_340+348delinsCG	NP_937799.1:n.340+347_340+348delinsCG
XM_011534078.1:c.341-229_341-228delinsCG	XP_011532380.1:n.341-229_341-228delinsCG
NM_001354723.1:c.341-229_341-228delinsCG	NP_001341652.1:n.341-229_341-228delinsCG
NM_000551.4:c.340+347_340+348delinsCG MANE Select	NP_000542.1:n.340+347_340+348delinsCG
NM_001354723.2:c.341-229_341-228delinsCG	NP_001341652.1:n.341-229_341-228delinsCG
NM_198156.3:c.340+347_340+348delinsCG	NP_937799.1:n.340+347_340+348delinsCG