Canonical Allele Identifier: CA2573131812

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149826_10149836del , CM000665.2:g.10149826_10149836del	GRCh38
NC_000003.11:g.10191510_10191520del , CM000665.1:g.10191510_10191520del	GRCh37
NC_000003.10:g.10166510_10166520del	NCBI36
NG_008212.3:g.13192_13202del , LRG_322:g.13192_13202del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*180_*190del	ENSP00000512434.1:n.*180_*190del
ENST00000696143.1:c.639_649del	ENSP00000512435.1:n.639_649del
ENST00000696153.1:c.614_624del	ENSP00000512444.1:p.Ser205ThrfsTer2
ENST00000256474.3:c.503_513del MANE Select	ENSP00000256474.3:p.Ser168ThrfsTer2
ENST00000256474.2:c.503_513del	ENSP00000256474.2:p.Ser168ThrfsTer2
ENST00000345392.2:c.380_390del	ENSP00000344757.2:p.Ser127ThrfsTer2
ENST00000477538.1:n.639_649del
NM_000551.3:c.503_513del , LRG_322t1:c.503_513del	NP_000542.1:p.Ser168ThrfsTer2
NM_198156.2:c.380_390del	NP_937799.1:p.Ser127ThrfsTer2
NM_001354723.1:c.*57_*67del	NP_001341652.1:n.*57_*67del
NM_000551.4:c.503_513del MANE Select	NP_000542.1:p.Ser168ThrfsTer2
NM_001354723.2:c.*57_*67del	NP_001341652.1:n.*57_*67del
NM_198156.3:c.380_390del	NP_937799.1:p.Ser127ThrfsTer2