Canonical Allele Identifier: CA2664401455

Gene: VHL

Linked Data

• gnomAD v4: 3-10142741-C-CCAG

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142742_10142743insAGC , CM000665.2:g.10142742_10142743insAGC	GRCh38
NC_000003.11:g.10184426_10184427insAGC , CM000665.1:g.10184426_10184427insAGC	GRCh37
NC_000003.10:g.10159426_10159427insAGC	NCBI36
NG_008212.3:g.6108_6109insAGC , LRG_322:g.6108_6109insAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.341-21_341-20insAGC	ENSP00000512434.1:n.341-21_341-20insAGC
ENST00000696143.1:c.341-21_341-20insAGC	ENSP00000512435.1:n.341-21_341-20insAGC
ENST00000696153.1:c.340+555_340+556insAGC	ENSP00000512444.1:n.340+555_340+556insAGC
ENST00000256474.3:c.340+555_340+556insAGC MANE Select	ENSP00000256474.3:n.340+555_340+556insAGC
ENST00000256474.2:c.340+555_340+556insAGC	ENSP00000256474.2:n.340+555_340+556insAGC
ENST00000345392.2:c.340+555_340+556insAGC	ENSP00000344757.2:n.340+555_340+556insAGC
ENST00000477538.1:n.197_198insAGC
NM_000551.3:c.340+555_340+556insAGC , LRG_322t1:c.340+555_340+556insAGC	NP_000542.1:n.340+555_340+556insAGC
NM_198156.2:c.340+555_340+556insAGC	NP_937799.1:n.340+555_340+556insAGC
XM_011534078.1:c.341-21_341-20insAGC	XP_011532380.1:n.341-21_341-20insAGC
NM_001354723.1:c.341-21_341-20insAGC	NP_001341652.1:n.341-21_341-20insAGC
NM_000551.4:c.340+555_340+556insAGC MANE Select	NP_000542.1:n.340+555_340+556insAGC
NM_001354723.2:c.341-21_341-20insAGC	NP_001341652.1:n.341-21_341-20insAGC
NM_198156.3:c.340+555_340+556insAGC	NP_937799.1:n.340+555_340+556insAGC