Canonical Allele Identifier: CA1045001275

Gene: VHL

Linked Data

• gnomAD v3: 3-10152510-TGAGATGGAGTCTCACTC-T
• gnomAD v4: 3-10152510-TGAGATGGAGTCTCACTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10152511_10152527del , CM000665.2:g.10152511_10152527del	GRCh38
NC_000003.11:g.10194195_10194211del , CM000665.1:g.10194195_10194211del	GRCh37
NC_000003.10:g.10169195_10169211del	NCBI36
NG_008212.3:g.15877_15893del , LRG_322:g.15877_15893del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696153.1:c.*2546_*2562del	ENSP00000512444.1:n.*2546_*2562del
ENST00000256474.3:c.*2546_*2562del MANE Select	ENSP00000256474.3:n.*2546_*2562del
NM_000551.3:c.*2546_*2562del , LRG_322t1:c.*2546_*2562del	NP_000542.1:n.*2546_*2562del
NM_198156.2:c.*2546_*2562del	NP_937799.1:n.*2546_*2562del
NM_001354723.1:c.*2742_*2758del	NP_001341652.1:n.*2742_*2758del
NM_000551.4:c.*2546_*2562del MANE Select	NP_000542.1:n.*2546_*2562del
NM_001354723.2:c.*2742_*2758del	NP_001341652.1:n.*2742_*2758del
NM_198156.3:c.*2546_*2562del	NP_937799.1:n.*2546_*2562del