Canonical Allele Identifier: CA2573131796

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146606_10146610del , CM000665.2:g.10146606_10146610del	GRCh38
NC_000003.11:g.10188290_10188294del , CM000665.1:g.10188290_10188294del	GRCh37
NC_000003.10:g.10163290_10163294del	NCBI36
NG_008212.3:g.9972_9976del , LRG_322:g.9972_9976del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*110_*114del	ENSP00000512434.1:n.*110_*114del
ENST00000696143.1:c.600-3181_600-3177del	ENSP00000512435.1:n.600-3181_600-3177del
ENST00000696153.1:c.433_437del	ENSP00000512444.1:p.Gln145TyrfsTer?
ENST00000256474.3:c.433_437del MANE Select	ENSP00000256474.3:p.Gln145TyrfsTer27
ENST00000256474.2:c.433_437del	ENSP00000256474.2:p.Gln145TyrfsTer27
ENST00000345392.2:c.341-3181_341-3177del	ENSP00000344757.2:n.341-3181_341-3177del
ENST00000477538.1:n.569_573del
NM_000551.3:c.433_437del , LRG_322t1:c.433_437del	NP_000542.1:p.Gln145TyrfsTer27
NM_198156.2:c.341-3181_341-3177del	NP_937799.1:n.341-3181_341-3177del
NM_001354723.1:c.*18-3181_*18-3177del	NP_001341652.1:n.*18-3181_*18-3177del
NM_000551.4:c.433_437del MANE Select	NP_000542.1:p.Gln145TyrfsTer27
NM_001354723.2:c.*18-3181_*18-3177del	NP_001341652.1:n.*18-3181_*18-3177del
NM_198156.3:c.341-3181_341-3177del	NP_937799.1:n.341-3181_341-3177del