Canonical Allele Identifier: CA116477
Gene: PHGDH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119735365del , CM000663.2:g.119735365del GRCh38
NC_000001.10:g.120277988del , CM000663.1:g.120277988del GRCh37
NC_000001.9:g.120079511del NCBI36
NG_009188.1:g.28570del

Transcript Alleles

HGVS Amino-acid Change
ENST00000369409.9:c.714del ENSP00000358417.5:p.Ile239SerfsTer?
ENST00000469443.2:n.534del
ENST00000641023.2:c.714del MANE Select ENSP00000493175.1:p.Ile239SerfsTer?
ENST00000641074.1:c.714del ENSP00000493446.1:p.Ile239SerfsTer?
ENST00000641115.1:c.714del ENSP00000493264.1:p.Ile239SerfsTer?
ENST00000641213.1:c.*367del ENSP00000493079.1:n.*367del
ENST00000641272.1:c.648del ENSP00000493432.1:p.Ile217SerfsTer?
ENST00000641314.1:n.699del
ENST00000641371.1:c.*190del ENSP00000493305.1:n.*190del
ENST00000641375.1:c.*550del ENSP00000493089.1:n.*550del
ENST00000641597.1:c.714del ENSP00000493382.1:p.Ile239SerfsTer?
ENST00000641756.1:c.*458del ENSP00000493147.1:n.*458del
ENST00000641811.1:c.470del
ENST00000641891.1:c.*540del ENSP00000493288.1:n.*540del
ENST00000641927.1:n.654del
ENST00000641947.1:c.714del ENSP00000492994.1:p.Ile239SerfsTer?
ENST00000642021.1:n.836del
ENST00000369407.3:c.612del ENSP00000358415.3:p.Ile205SerfsTer?
ENST00000369409.8:c.714del ENSP00000358417.4:p.Ile239SerfsTer?
ENST00000469443.1:n.534del
NM_006623.3:c.714del NP_006614.2:p.Ile239SerfsTer?
XM_011541226.1:c.936del XP_011539528.1:p.Ile313SerfsTer?
XM_011541227.1:c.858del XP_011539529.1:p.Ile287SerfsTer?
XM_011541228.1:c.825del XP_011539530.1:p.Ile276SerfsTer?
XM_011541229.1:c.651del XP_011539531.1:p.Ile218SerfsTer?
XM_011541230.1:c.429del XP_011539532.1:p.Ile144SerfsTer?
XM_011541231.1:c.420del XP_011539533.1:p.Ile141SerfsTer?
XM_011541226.2:c.936del XP_011539528.1:p.Ile313SerfsTer?
XM_011541227.2:c.858del XP_011539529.1:p.Ile287SerfsTer?
XM_011541228.2:c.825del XP_011539530.1:p.Ile276SerfsTer?
XM_011541231.2:c.420del XP_011539533.1:p.Ile141SerfsTer?
XM_024446338.1:c.825del XP_024302106.1:p.Ile276SerfsTer?
NM_006623.4:c.714del MANE Select NP_006614.2:p.Ile239SerfsTer?