Canonical Allele Identifier: CA2573050544

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146616_10146628delinsA , CM000665.2:g.10146616_10146628delinsA	GRCh38
NC_000003.11:g.10188300_10188312delinsA , CM000665.1:g.10188300_10188312delinsA	GRCh37
NC_000003.10:g.10163300_10163312delinsA	NCBI36
NG_008212.3:g.9982_9994delinsA , LRG_322:g.9982_9994delinsA

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*120_*132delinsA	ENSP00000512434.1:n.*120_*132delinsA
ENST00000696143.1:c.600-3171_600-3159delinsA	ENSP00000512435.1:n.600-3171_600-3159deli...
ENST00000696153.1:c.443_455delinsA	ENSP00000512444.1:p.Phe148Ter
ENST00000256474.3:c.443_455delinsA MANE Select	ENSP00000256474.3:p.Phe148Ter
ENST00000256474.2:c.443_455delinsA	ENSP00000256474.2:p.Phe148Ter
ENST00000345392.2:c.341-3171_341-3159delinsA	ENSP00000344757.2:n.341-3171_341-3159deli...
ENST00000477538.1:n.579_591delinsA
NM_000551.3:c.443_455delinsA , LRG_322t1:c.443_455delinsA	NP_000542.1:p.Phe148Ter
NM_198156.2:c.341-3171_341-3159delinsA	NP_937799.1:n.341-3171_341-3159delinsA
NM_001354723.1:c.*18-3171_*18-3159delinsA	NP_001341652.1:n.*18-3171_*18-3159delinsA...
NM_000551.4:c.443_455delinsA MANE Select	NP_000542.1:p.Phe148Ter
NM_001354723.2:c.*18-3171_*18-3159delinsA	NP_001341652.1:n.*18-3171_*18-3159delinsA...
NM_198156.3:c.341-3171_341-3159delinsA	NP_937799.1:n.341-3171_341-3159delinsA