Canonical Allele Identifier: CA540875767

Gene: VHL

Linked Data

• gnomAD v2: 3-10184049-A-ATTT
• gnomAD v3: 3-10142365-A-ATTT
• gnomAD v4: 3-10142365-A-ATTT
• MyVariant Identifiers: chr3:g.10184049_10184050insTTT (hg19) ; chr3:g.10142365_10142366insTTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142365_10142366insTTT , CM000665.2:g.10142365_10142366insTTT	GRCh38
NC_000003.11:g.10184049_10184050insTTT , CM000665.1:g.10184049_10184050insTTT	GRCh37
NC_000003.10:g.10159049_10159050insTTT	NCBI36
NG_008212.3:g.5731_5732insTTT , LRG_322:g.5731_5732insTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.340+178_340+179insTTT	ENSP00000512434.1:n.340+178_340+179insTTT
ENST00000696143.1:c.340+178_340+179insTTT	ENSP00000512435.1:n.340+178_340+179insTTT
ENST00000696153.1:c.340+178_340+179insTTT	ENSP00000512444.1:n.340+178_340+179insTTT
ENST00000256474.3:c.340+178_340+179insTTT MANE Select	ENSP00000256474.3:n.340+178_340+179insTTT
ENST00000256474.2:c.340+178_340+179insTTT	ENSP00000256474.2:n.340+178_340+179insTTT
ENST00000345392.2:c.340+178_340+179insTTT	ENSP00000344757.2:n.340+178_340+179insTTT
NM_000551.3:c.340+178_340+179insTTT , LRG_322t1:c.340+178_340+179insTTT	NP_000542.1:n.340+178_340+179insTTT
NM_198156.2:c.340+178_340+179insTTT	NP_937799.1:n.340+178_340+179insTTT
XM_011534078.1:c.340+178_340+179insTTT	XP_011532380.1:n.340+178_340+179insTTT
NM_001354723.1:c.340+178_340+179insTTT	NP_001341652.1:n.340+178_340+179insTTT
NM_000551.4:c.340+178_340+179insTTT MANE Select	NP_000542.1:n.340+178_340+179insTTT
NM_001354723.2:c.340+178_340+179insTTT	NP_001341652.1:n.340+178_340+179insTTT
NM_198156.3:c.340+178_340+179insTTT	NP_937799.1:n.340+178_340+179insTTT