Canonical Allele Identifier: CA896159824

Gene: VHL

Linked Data

• dbSNP Id: rs1226222438
• gnomAD v3: 3-10142360-T-TTTC
• gnomAD v4: 3-10142360-T-TTTC
• MyVariant Identifiers: chr3:g.10184044_10184045insTTC (hg19) ; chr3:g.10142360_10142361insTTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142361_10142362insTCT , CM000665.2:g.10142361_10142362insTCT	GRCh38
NC_000003.11:g.10184045_10184046insTCT , CM000665.1:g.10184045_10184046insTCT	GRCh37
NC_000003.10:g.10159045_10159046insTCT	NCBI36
NG_008212.3:g.5727_5728insTCT , LRG_322:g.5727_5728insTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.340+174_340+175insTCT	ENSP00000512434.1:n.340+174_340+175insTCT
ENST00000696143.1:c.340+174_340+175insTCT	ENSP00000512435.1:n.340+174_340+175insTCT
ENST00000696153.1:c.340+174_340+175insTCT	ENSP00000512444.1:n.340+174_340+175insTCT
ENST00000256474.3:c.340+174_340+175insTCT MANE Select	ENSP00000256474.3:n.340+174_340+175insTCT
ENST00000256474.2:c.340+174_340+175insTCT	ENSP00000256474.2:n.340+174_340+175insTCT
ENST00000345392.2:c.340+174_340+175insTCT	ENSP00000344757.2:n.340+174_340+175insTCT
NM_000551.3:c.340+174_340+175insTCT , LRG_322t1:c.340+174_340+175insTCT	NP_000542.1:n.340+174_340+175insTCT
NM_198156.2:c.340+174_340+175insTCT	NP_937799.1:n.340+174_340+175insTCT
XM_011534078.1:c.340+174_340+175insTCT	XP_011532380.1:n.340+174_340+175insTCT
NM_001354723.1:c.340+174_340+175insTCT	NP_001341652.1:n.340+174_340+175insTCT
NM_000551.4:c.340+174_340+175insTCT MANE Select	NP_000542.1:n.340+174_340+175insTCT
NM_001354723.2:c.340+174_340+175insTCT	NP_001341652.1:n.340+174_340+175insTCT
NM_198156.3:c.340+174_340+175insTCT	NP_937799.1:n.340+174_340+175insTCT