Canonical Allele Identifier: CA1044996173

Gene: VHL

Linked Data

• dbSNP Id: rs1696199153
• gnomAD v3: 3-10144262-CTGGAGACCAGCCTGTGCAACATAGTGAGACCCTGTCTGTATTTAAAAAAAAAAAAAATTCTTGAAAAATTAGCAGGGCACATTCCTGCCTTTAGTCCCAGCTACTTGGGAAGCTGAGGCAGGAAGATCACCCGAACCCAGGAGT-C
• gnomAD v4: 3-10144262-CTGGAGACCAGCCTGTGCAACATAGTGAGACCCTGTCTGTATTTAAAAAAAAAAAAAATTCTTGAAAAATTAGCAGGGCACATTCCTGCCTTTAGTCCCAGCTACTTGGGAAGCTGAGGCAGGAAGATCACCCGAACCCAGGAGT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10144268_10144411del , CM000665.2:g.10144268_10144411del	GRCh38
NC_000003.11:g.10185952_10186095del , CM000665.1:g.10185952_10186095del	GRCh37
NC_000003.10:g.10160952_10161095del	NCBI36
NG_008212.3:g.7634_7777del , LRG_322:g.7634_7777del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*17+1247_*17+1390del	ENSP00000512434.1:n.*17+1247_*17+1390del
ENST00000696143.1:c.599+1247_599+1390del	ENSP00000512435.1:n.599+1247_599+1390del
ENST00000696153.1:c.340+2081_341-2103del	ENSP00000512444.1:n.340+2081_341-2103del
ENST00000256474.3:c.340+2081_341-2103del MANE Select	ENSP00000256474.3:n.340+2081_341-2103del
ENST00000256474.2:c.340+2081_341-2103del	ENSP00000256474.2:n.340+2081_341-2103del
ENST00000345392.2:c.340+2081_340+2224del	ENSP00000344757.2:n.340+2081_340+2224del
ENST00000477538.1:n.476+1247_476+1390del
NM_000551.3:c.340+2081_341-2103del , LRG_322t1:c.340+2081_341-2103del	NP_000542.1:n.340+2081_341-2103del
NM_198156.2:c.340+2081_340+2224del	NP_937799.1:n.340+2081_340+2224del
XM_011534078.1:c.*17+1247_*17+1390del	XP_011532380.1:n.*17+1247_*17+1390del
NM_001354723.1:c.*17+1247_*17+1390del	NP_001341652.1:n.*17+1247_*17+1390del
NM_000551.4:c.340+2081_341-2103del MANE Select	NP_000542.1:n.340+2081_341-2103del
NM_001354723.2:c.*17+1247_*17+1390del	NP_001341652.1:n.*17+1247_*17+1390del
NM_198156.3:c.340+2081_340+2224del	NP_937799.1:n.340+2081_340+2224del