Canonical Allele Identifier: CA1345065796

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10153223_10153226delinsAGCT , CM000665.2:g.10153223_10153226delinsAGCT	GRCh38
NC_000003.11:g.10194907_10194910delinsAGCT , CM000665.1:g.10194907_10194910delinsAGCT	GRCh37
NC_000003.10:g.10169907_10169910delinsAGCT	NCBI36
NG_008212.3:g.16589_16592delinsAGCT , LRG_322:g.16589_16592delinsAGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696153.1:c.*3258_*3261delinsAGCT	ENSP00000512444.1:n.*3258_*3261delinsAGCT
ENST00000256474.3:c.*3258_*3261delinsAGCT MANE Select	ENSP00000256474.3:n.*3258_*3261delinsAGCT
NM_000551.3:c.*3258_*3261delinsAGCT , LRG_322t1:c.*3258_*3261delinsAGCT	NP_000542.1:n.*3258_*3261delinsAGCT
NM_198156.2:c.*3258_*3261delinsAGCT	NP_937799.1:n.*3258_*3261delinsAGCT
NM_001354723.1:c.*3454_*3457delinsAGCT	NP_001341652.1:n.*3454_*3457delinsAGCT
NM_000551.4:c.*3258_*3261delinsAGCT MANE Select	NP_000542.1:n.*3258_*3261delinsAGCT
NM_001354723.2:c.*3454_*3457delinsAGCT	NP_001341652.1:n.*3454_*3457delinsAGCT
NM_198156.3:c.*3258_*3261delinsAGCT	NP_937799.1:n.*3258_*3261delinsAGCT