Canonical Allele Identifier: CA1345065275

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10152503_10152511delinsTTTTTTTTG , CM000665.2:g.10152503_10152511delinsTTTTTTTTG	GRCh38
NC_000003.11:g.10194187_10194195delinsTTTTTTTTG , CM000665.1:g.10194187_10194195delinsTTTTTTTTG	GRCh37
NC_000003.10:g.10169187_10169195delinsTTTTTTTTG	NCBI36
NG_008212.3:g.15869_15877delinsTTTTTTTTG , LRG_322:g.15869_15877delinsTTTTTTTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696153.1:c.*2538_*2546delinsTTTTTTTTG	ENSP00000512444.1:n.*2538_*2546delinsTTTTTTTTG
ENST00000256474.3:c.*2538_*2546delinsTTTTTTTTG MANE Select	ENSP00000256474.3:n.*2538_*2546delinsTTTTTTTTG
NM_000551.3:c.*2538_*2546delinsTTTTTTTTG , LRG_322t1:c.*2538_*2546delinsTTTTTTTTG	NP_000542.1:n.*2538_*2546delinsTTTTTTTTG
NM_198156.2:c.*2538_*2546delinsTTTTTTTTG	NP_937799.1:n.*2538_*2546delinsTTTTTTTTG
NM_001354723.1:c.*2734_*2742delinsTTTTTTTTG	NP_001341652.1:n.*2734_*2742delinsTTTTTTTTG
NM_000551.4:c.*2538_*2546delinsTTTTTTTTG MANE Select	NP_000542.1:n.*2538_*2546delinsTTTTTTTTG
NM_001354723.2:c.*2734_*2742delinsTTTTTTTTG	NP_001341652.1:n.*2734_*2742delinsTTTTTTTTG
NM_198156.3:c.*2538_*2546delinsTTTTTTTTG	NP_937799.1:n.*2538_*2546delinsTTTTTTTTG