Canonical Allele Identifier: CA2580060905
Gene: PHGDH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119742991del , CM000663.2:g.119742991del GRCh38
NC_000001.10:g.120285614del , CM000663.1:g.120285614del GRCh37
NC_000001.9:g.120087137del NCBI36
NG_009188.1:g.36196del

Transcript Alleles

HGVS Amino-acid Change
ENST00000369409.9:c.1394del ENSP00000358417.5:p.Leu465ArgfsTer17
ENST00000641023.2:c.1394del MANE Select ENSP00000493175.1:p.Leu465ArgfsTer17
ENST00000641074.1:c.1263del ENSP00000493446.1:p.Ala422LeufsTer?
ENST00000641115.1:c.1130del ENSP00000493264.1:p.Leu377ArgfsTer17
ENST00000641213.1:c.*1047del ENSP00000493079.1:n.*1047del
ENST00000641314.1:n.1379del
ENST00000641375.1:c.*1230del ENSP00000493089.1:n.*1230del
ENST00000641597.1:c.1394del ENSP00000493382.1:p.Leu465ArgfsTer17
ENST00000641756.1:c.*1138del ENSP00000493147.1:n.*1138del
ENST00000641811.1:c.702-895del
ENST00000641891.1:c.*1220del ENSP00000493288.1:n.*1220del
ENST00000641927.1:n.1334del
ENST00000641939.1:n.519del
ENST00000641947.1:c.1373del ENSP00000492994.1:p.Leu458ArgfsTer17
ENST00000642021.1:n.2425del
ENST00000369407.3:c.1292del ENSP00000358415.3:p.Leu431ArgfsTer17
ENST00000369409.8:c.1394del ENSP00000358417.4:p.Leu465ArgfsTer17
ENST00000482968.1:n.1373del
NM_006623.3:c.1394del NP_006614.2:p.Leu465ArgfsTer17
XM_011541226.1:c.1616del XP_011539528.1:p.Leu539ArgfsTer17
XM_011541227.1:c.1538del XP_011539529.1:p.Leu513ArgfsTer17
XM_011541228.1:c.1505del XP_011539530.1:p.Leu502ArgfsTer17
XM_011541229.1:c.1331del XP_011539531.1:p.Leu444ArgfsTer17
XM_011541230.1:c.1109del XP_011539532.1:p.Leu370ArgfsTer17
XM_011541231.1:c.1100del XP_011539533.1:p.Leu367ArgfsTer17
XM_011541226.2:c.1616del XP_011539528.1:p.Leu539ArgfsTer17
XM_011541227.2:c.1538del XP_011539529.1:p.Leu513ArgfsTer17
XM_011541228.2:c.1505del XP_011539530.1:p.Leu502ArgfsTer17
XM_011541231.2:c.1100del XP_011539533.1:p.Leu367ArgfsTer17
XM_024446338.1:c.1505del XP_024302106.1:p.Leu502ArgfsTer17
NM_006623.4:c.1394del MANE Select NP_006614.2:p.Leu465ArgfsTer17