Canonical Allele Identifier: CA1345062773

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149901_10149903delinsATG , CM000665.2:g.10149901_10149903delinsATG	GRCh38
NC_000003.11:g.10191585_10191587delinsATG , CM000665.1:g.10191585_10191587delinsATG	GRCh37
NC_000003.10:g.10166585_10166587delinsATG	NCBI36
NG_008212.3:g.13267_13269delinsATG , LRG_322:g.13267_13269delinsATG

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*255_*257delinsATG	ENSP00000512434.1:n.*255_*257delinsATG
ENST00000696143.1:c.714_716delinsATG	ENSP00000512435.1:n.714_716delinsATG
ENST00000696153.1:c.689_691delinsATG	ENSP00000512444.1:p.Asn230=
ENST00000256474.3:c.578_580delinsATG MANE Select	ENSP00000256474.3:p.Asn193=
ENST00000256474.2:c.578_580delinsATG	ENSP00000256474.2:p.Asn193=
ENST00000345392.2:c.455_457delinsATG	ENSP00000344757.2:p.Asn152=
ENST00000477538.1:n.714_716delinsATG
NM_000551.3:c.578_580delinsATG , LRG_322t1:c.578_580delinsATG	NP_000542.1:p.Asn193=
NM_198156.2:c.455_457delinsATG	NP_937799.1:p.Asn152=
NM_001354723.1:c.*132_*134delinsATG	NP_001341652.1:n.*132_*134delinsATG
NM_000551.4:c.578_580delinsATG MANE Select	NP_000542.1:p.Asn193=
NM_001354723.2:c.*132_*134delinsATG	NP_001341652.1:n.*132_*134delinsATG
NM_198156.3:c.455_457delinsATG	NP_937799.1:p.Asn152=