Canonical Allele Identifier: CA1045000824

Gene: VHL

Linked Data

• dbSNP Id: rs1696432161
• gnomAD v3: 3-10152368-T-TA
• gnomAD v4: 3-10152368-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10152368_10152369insA , CM000665.2:g.10152368_10152369insA	GRCh38
NC_000003.11:g.10194052_10194053insA , CM000665.1:g.10194052_10194053insA	GRCh37
NC_000003.10:g.10169052_10169053insA	NCBI36
NG_008212.3:g.15734_15735insA , LRG_322:g.15734_15735insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696153.1:c.*2403_*2404insA	ENSP00000512444.1:n.*2403_*2404insA
ENST00000256474.3:c.*2403_*2404insA MANE Select	ENSP00000256474.3:n.*2403_*2404insA
NM_000551.3:c.*2403_*2404insA , LRG_322t1:c.*2403_*2404insA	NP_000542.1:n.*2403_*2404insA
NM_198156.2:c.*2403_*2404insA	NP_937799.1:n.*2403_*2404insA
NM_001354723.1:c.*2599_*2600insA	NP_001341652.1:n.*2599_*2600insA
NM_000551.4:c.*2403_*2404insA MANE Select	NP_000542.1:n.*2403_*2404insA
NM_001354723.2:c.*2599_*2600insA	NP_001341652.1:n.*2599_*2600insA
NM_198156.3:c.*2403_*2404insA	NP_937799.1:n.*2403_*2404insA