Canonical Allele Identifier: CA916832778

Gene: VHL

Linked Data

• dbSNP Id: rs1575933093

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10150241_10150249del , CM000665.2:g.10150241_10150249del	GRCh38
NC_000003.11:g.10191925_10191933del , CM000665.1:g.10191925_10191933del	GRCh37
NC_000003.10:g.10166925_10166933del	NCBI36
NG_008212.3:g.13607_13615del , LRG_322:g.13607_13615del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*595_*603del	ENSP00000512434.1:n.*595_*603del
ENST00000696143.1:c.1054_1062del	ENSP00000512435.1:n.1054_1062del
ENST00000696153.1:c.*276_*284del	ENSP00000512444.1:n.*276_*284del
ENST00000256474.3:c.*276_*284del MANE Select	ENSP00000256474.3:n.*276_*284del
ENST00000256474.2:c.*276_*284del	ENSP00000256474.2:n.*276_*284del
ENST00000345392.2:c.*276_*284del	ENSP00000344757.2:n.*276_*284del
NM_000551.3:c.*276_*284del , LRG_322t1:c.*276_*284del	NP_000542.1:n.*276_*284del
NM_198156.2:c.*276_*284del	NP_937799.1:n.*276_*284del
NM_001354723.1:c.*472_*480del	NP_001341652.1:n.*472_*480del
NM_000551.4:c.*276_*284del MANE Select	NP_000542.1:n.*276_*284del
NM_001354723.2:c.*472_*480del	NP_001341652.1:n.*472_*480del
NM_198156.3:c.*276_*284del	NP_937799.1:n.*276_*284del