Canonical Allele Identifier: CA2499306820

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149855_10149865delinsATTA , CM000665.2:g.10149855_10149865delinsATTA	GRCh38
NC_000003.11:g.10191539_10191549delinsATTA , CM000665.1:g.10191539_10191549delinsATTA	GRCh37
NC_000003.10:g.10166539_10166549delinsATTA	NCBI36
NG_008212.3:g.13221_13231delinsATTA , LRG_322:g.13221_13231delinsATTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*209_*219delinsATTA	ENSP00000512434.1:n.*209_*219delinsATTA
ENST00000696143.1:c.668_678delinsATTA	ENSP00000512435.1:n.668_678delinsATTA
ENST00000696153.1:c.643_653delinsATTA	ENSP00000512444.1:p.Leu215IlefsTer22
ENST00000256474.3:c.532_542delinsATTA MANE Select	ENSP00000256474.3:p.Leu178IlefsTer22
ENST00000256474.2:c.532_542delinsATTA	ENSP00000256474.2:p.Leu178IlefsTer22
ENST00000345392.2:c.409_419delinsATTA	ENSP00000344757.2:p.Leu137IlefsTer22
ENST00000477538.1:n.668_678delinsATTA
NM_000551.3:c.532_542delinsATTA , LRG_322t1:c.532_542delinsATTA	NP_000542.1:p.Leu178IlefsTer22
NM_198156.2:c.409_419delinsATTA	NP_937799.1:p.Leu137IlefsTer22
NM_001354723.1:c.*86_*96delinsATTA	NP_001341652.1:n.*86_*96delinsATTA
NM_000551.4:c.532_542delinsATTA MANE Select	NP_000542.1:p.Leu178IlefsTer22
NM_001354723.2:c.*86_*96delinsATTA	NP_001341652.1:n.*86_*96delinsATTA
NM_198156.3:c.409_419delinsATTA	NP_937799.1:p.Leu137IlefsTer22