Canonical Allele Identifier: CA1345065853

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10153289_10153290delinsCA , CM000665.2:g.10153289_10153290delinsCA	GRCh38
NC_000003.11:g.10194973_10194974delinsCA , CM000665.1:g.10194973_10194974delinsCA	GRCh37
NC_000003.10:g.10169973_10169974delinsCA	NCBI36
NG_008212.3:g.16655_16656delinsCA , LRG_322:g.16655_16656delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696153.1:c.*3324_*3325delinsCA	ENSP00000512444.1:n.*3324_*3325delinsCA
ENST00000256474.3:c.*3324_*3325delinsCA MANE Select	ENSP00000256474.3:n.*3324_*3325delinsCA
NM_000551.3:c.*3324_*3325delinsCA , LRG_322t1:c.*3324_*3325delinsCA	NP_000542.1:n.*3324_*3325delinsCA
NM_198156.2:c.*3324_*3325delinsCA	NP_937799.1:n.*3324_*3325delinsCA
NM_001354723.1:c.*3520_*3521delinsCA	NP_001341652.1:n.*3520_*3521delinsCA
NM_000551.4:c.*3324_*3325delinsCA MANE Select	NP_000542.1:n.*3324_*3325delinsCA
NM_001354723.2:c.*3520_*3521delinsCA	NP_001341652.1:n.*3520_*3521delinsCA
NM_198156.3:c.*3324_*3325delinsCA	NP_937799.1:n.*3324_*3325delinsCA