Canonical Allele Identifier: CA2592313285

Gene: VHL

Linked Data

• gnomAD v3: 3-10152509-T-TGGTG

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10152509_10152510insGGTG , CM000665.2:g.10152509_10152510insGGTG	GRCh38
NC_000003.11:g.10194193_10194194insGGTG , CM000665.1:g.10194193_10194194insGGTG	GRCh37
NC_000003.10:g.10169193_10169194insGGTG	NCBI36
NG_008212.3:g.15875_15876insGGTG , LRG_322:g.15875_15876insGGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696153.1:c.*2544_*2545insGGTG	ENSP00000512444.1:n.*2544_*2545insGGTG
ENST00000256474.3:c.*2544_*2545insGGTG MANE Select	ENSP00000256474.3:n.*2544_*2545insGGTG
NM_000551.3:c.*2544_*2545insGGTG , LRG_322t1:c.*2544_*2545insGGTG	NP_000542.1:n.*2544_*2545insGGTG
NM_198156.2:c.*2544_*2545insGGTG	NP_937799.1:n.*2544_*2545insGGTG
NM_001354723.1:c.*2740_*2741insGGTG	NP_001341652.1:n.*2740_*2741insGGTG
NM_000551.4:c.*2544_*2545insGGTG MANE Select	NP_000542.1:n.*2544_*2545insGGTG
NM_001354723.2:c.*2740_*2741insGGTG	NP_001341652.1:n.*2740_*2741insGGTG
NM_198156.3:c.*2544_*2545insGGTG	NP_937799.1:n.*2544_*2545insGGTG