Canonical Allele Identifier: CA540877695
Gene: VHL HGNC NCBI

Linked Data

dbSNP Id: rs1362125038
gnomAD v2: 3-10194162-AGTCTTT-A
gnomAD v3: 3-10152478-AGTCTTT-A
gnomAD v4: 3-10152478-AGTCTTT-A
MyVariant Identifiers: chr3:g.10194163_10194168del (hg19) chr3:g.10152479_10152484del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10152479_10152484del , CM000665.2:g.10152479_10152484del GRCh38
NC_000003.11:g.10194163_10194168del , CM000665.1:g.10194163_10194168del GRCh37
NC_000003.10:g.10169163_10169168del NCBI36
NG_008212.3:g.15845_15850del , LRG_322:g.15845_15850del

Transcript Alleles

HGVS Amino-acid Change
ENST00000696153.1:c.*2514_*2519del ENSP00000512444.1:n.*2514_*2519del
ENST00000256474.3:c.*2514_*2519del MANE Select ENSP00000256474.3:n.*2514_*2519del
NM_000551.3:c.*2514_*2519del , LRG_322t1:c.*2514_*2519del NP_000542.1:n.*2514_*2519del
NM_198156.2:c.*2514_*2519del NP_937799.1:n.*2514_*2519del
NM_001354723.1:c.*2710_*2715del NP_001341652.1:n.*2710_*2715del
NM_000551.4:c.*2514_*2519del MANE Select NP_000542.1:n.*2514_*2519del
NM_001354723.2:c.*2710_*2715del NP_001341652.1:n.*2710_*2715del
NM_198156.3:c.*2514_*2519del NP_937799.1:n.*2514_*2519del
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