Canonical Allele Identifier: CA2664400899

Gene: VHL

Linked Data

• gnomAD v4: 3-10142535-GGGGTTTCACCATGTT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142538_10142552del , CM000665.2:g.10142538_10142552del	GRCh38
NC_000003.11:g.10184222_10184236del , CM000665.1:g.10184222_10184236del	GRCh37
NC_000003.10:g.10159222_10159236del	NCBI36
NG_008212.3:g.5904_5918del , LRG_322:g.5904_5918del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.341-225_341-211del	ENSP00000512434.1:n.341-225_341-211del
ENST00000696143.1:c.341-225_341-211del	ENSP00000512435.1:n.341-225_341-211del
ENST00000696153.1:c.340+351_340+365del	ENSP00000512444.1:n.340+351_340+365del
ENST00000256474.3:c.340+351_340+365del MANE Select	ENSP00000256474.3:n.340+351_340+365del
ENST00000256474.2:c.340+351_340+365del	ENSP00000256474.2:n.340+351_340+365del
ENST00000345392.2:c.340+351_340+365del	ENSP00000344757.2:n.340+351_340+365del
NM_000551.3:c.340+351_340+365del , LRG_322t1:c.340+351_340+365del	NP_000542.1:n.340+351_340+365del
NM_198156.2:c.340+351_340+365del	NP_937799.1:n.340+351_340+365del
XM_011534078.1:c.341-225_341-211del	XP_011532380.1:n.341-225_341-211del
NM_001354723.1:c.341-225_341-211del	NP_001341652.1:n.341-225_341-211del
NM_000551.4:c.340+351_340+365del MANE Select	NP_000542.1:n.340+351_340+365del
NM_001354723.2:c.341-225_341-211del	NP_001341652.1:n.341-225_341-211del
NM_198156.3:c.340+351_340+365del	NP_937799.1:n.340+351_340+365del