Canonical Allele Identifier: CA2647394940
Gene: PHGDH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119737119_119737121del , CM000663.2:g.119737119_119737121del GRCh38
NC_000001.10:g.120279742_120279744del , CM000663.1:g.120279742_120279744del GRCh37
NC_000001.9:g.120081265_120081267del NCBI36
NG_009188.1:g.30324_30326del

Transcript Alleles

HGVS Amino-acid Change
ENST00000369409.9:c.798_800del ENSP00000358417.5:p.Pro267del
ENST00000469443.2:n.618_620del
ENST00000641023.2:c.798_800del MANE Select ENSP00000493175.1:p.Pro267del
ENST00000641074.1:c.798_800del ENSP00000493446.1:p.Pro267del
ENST00000641115.1:c.798_800del ENSP00000493264.1:p.Pro267del
ENST00000641213.1:c.*451_*453del ENSP00000493079.1:n.*451_*453del
ENST00000641314.1:n.783_785del
ENST00000641375.1:c.*634_*636del ENSP00000493089.1:n.*634_*636del
ENST00000641597.1:c.798_800del ENSP00000493382.1:p.Pro267del
ENST00000641756.1:c.*542_*544del ENSP00000493147.1:n.*542_*544del
ENST00000641811.1:c.554_556del
ENST00000641891.1:c.*624_*626del ENSP00000493288.1:n.*624_*626del
ENST00000641927.1:n.738_740del
ENST00000641947.1:c.798_800del ENSP00000492994.1:p.Pro267del
ENST00000642021.1:n.920_922del
ENST00000369407.3:c.696_698del ENSP00000358415.3:p.Pro233del
ENST00000369409.8:c.798_800del ENSP00000358417.4:p.Pro267del
NM_006623.3:c.798_800del NP_006614.2:p.Pro267del
XM_011541226.1:c.1020_1022del XP_011539528.1:p.Pro341del
XM_011541227.1:c.942_944del XP_011539529.1:p.Pro315del
XM_011541228.1:c.909_911del XP_011539530.1:p.Pro304del
XM_011541229.1:c.735_737del XP_011539531.1:p.Pro246del
XM_011541230.1:c.513_515del XP_011539532.1:p.Pro172del
XM_011541231.1:c.504_506del XP_011539533.1:p.Pro169del
XM_011541226.2:c.1020_1022del XP_011539528.1:p.Pro341del
XM_011541227.2:c.942_944del XP_011539529.1:p.Pro315del
XM_011541228.2:c.909_911del XP_011539530.1:p.Pro304del
XM_011541231.2:c.504_506del XP_011539533.1:p.Pro169del
XM_024446338.1:c.909_911del XP_024302106.1:p.Pro304del
NM_006623.4:c.798_800del MANE Select NP_006614.2:p.Pro267del