Canonical Allele Identifier: CA1045001233

Gene: VHL

Linked Data

• gnomAD v3: 3-10152507-T-TGAA
• gnomAD v4: 3-10152507-T-TGAA

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10152507_10152508insGAA , CM000665.2:g.10152507_10152508insGAA	GRCh38
NC_000003.11:g.10194191_10194192insGAA , CM000665.1:g.10194191_10194192insGAA	GRCh37
NC_000003.10:g.10169191_10169192insGAA	NCBI36
NG_008212.3:g.15873_15874insGAA , LRG_322:g.15873_15874insGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696153.1:c.*2542_*2543insGAA	ENSP00000512444.1:n.*2542_*2543insGAA
ENST00000256474.3:c.*2542_*2543insGAA MANE Select	ENSP00000256474.3:n.*2542_*2543insGAA
NM_000551.3:c.*2542_*2543insGAA , LRG_322t1:c.*2542_*2543insGAA	NP_000542.1:n.*2542_*2543insGAA
NM_198156.2:c.*2542_*2543insGAA	NP_937799.1:n.*2542_*2543insGAA
NM_001354723.1:c.*2738_*2739insGAA	NP_001341652.1:n.*2738_*2739insGAA
NM_000551.4:c.*2542_*2543insGAA MANE Select	NP_000542.1:n.*2542_*2543insGAA
NM_001354723.2:c.*2738_*2739insGAA	NP_001341652.1:n.*2738_*2739insGAA
NM_198156.3:c.*2542_*2543insGAA	NP_937799.1:n.*2542_*2543insGAA