Canonical Allele Identifier: CA1044995261

Gene: VHL

Linked Data

• gnomAD v3: 3-10142341-C-CTTTTTTTTTTTTTTTTTTTTTTTTT
• gnomAD v4: 3-10142341-C-CTTTTTTTTTTTTTTTTTTTTTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142361_10142362insTTTTTTTTTTTTTTTTTTTTTTTTT , CM000665.2:g.10142361_10142362insTTTTTTTTTTTTTTTTTTTTTTTTT	GRCh38
NC_000003.11:g.10184045_10184046insTTTTTTTTTTTTTTTTTTTTTTTTT , CM000665.1:g.10184045_10184046insTTTTTTTTTTTTTTTTTTTTTTTTT	GRCh37
NC_000003.10:g.10159045_10159046insTTTTTTTTTTTTTTTTTTTTTTTTT	NCBI36
NG_008212.3:g.5727_5728insTTTTTTTTTTTTTTTTTTTTTTTTT , LRG_322:g.5727_5728insTTTTTTTTTTTTTTTTTTTTTTTTT

Transcript Alleles

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