Canonical Allele Identifier: CA2647393389

Gene: PHGDH

Linked Data

• gnomAD v4: 1-119726898-GGAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119726903_119726905del , CM000663.2:g.119726903_119726905del	GRCh38
NC_000001.10:g.120269526_120269528del , CM000663.1:g.120269526_120269528del	GRCh37
NC_000001.9:g.120071049_120071051del	NCBI36
NG_009188.1:g.20108_20110del

Transcript Alleles

HGVS	Amino-acid change
ENST00000369409.9:c.409_411del	ENSP00000358417.5:p.Lys137del
ENST00000462324.2:n.492_494del
ENST00000641023.2:c.409_411del MANE Select	ENSP00000493175.1:p.Lys137del
ENST00000641074.1:c.409_411del	ENSP00000493446.1:p.Lys137del
ENST00000641115.1:c.409_411del	ENSP00000493264.1:p.Lys137del
ENST00000641213.1:c.*62_*64del	ENSP00000493079.1:n.*62_*64del
ENST00000641247.1:c.*128_*130del	ENSP00000492955.1:n.*128_*130del
ENST00000641272.1:c.343_345del	ENSP00000493432.1:p.Lys115del
ENST00000641314.1:n.394_396del
ENST00000641371.1:c.323_325del	ENSP00000493305.1:p.Glu108del
ENST00000641375.1:c.*245_*247del	ENSP00000493089.1:n.*245_*247del
ENST00000641491.1:c.*62_*64del	ENSP00000493187.1:n.*62_*64del
ENST00000641570.1:c.*128_*130del	ENSP00000493213.1:n.*128_*130del
ENST00000641573.1:n.497_499del
ENST00000641587.1:c.*120_*122del	ENSP00000493453.1:n.*120_*122del
ENST00000641597.1:c.409_411del	ENSP00000493382.1:p.Lys137del
ENST00000641711.1:n.633_635del
ENST00000641756.1:c.*153_*155del	ENSP00000493147.1:n.*153_*155del
ENST00000641811.1:c.165_167del
ENST00000641847.1:n.268_270del
ENST00000641891.1:c.*235_*237del	ENSP00000493288.1:n.*235_*237del
ENST00000641927.1:n.349_351del
ENST00000641947.1:c.409_411del	ENSP00000492994.1:p.Lys137del
ENST00000642021.1:n.531_533del
ENST00000642041.1:c.*448_*450del	ENSP00000493415.1:n.*448_*450del
ENST00000369407.3:c.307_309del	ENSP00000358415.3:p.Lys103del
ENST00000369409.8:c.409_411del	ENSP00000358417.4:p.Lys137del
ENST00000462324.1:n.677_679del
ENST00000493622.5:n.598_600del
NM_006623.3:c.409_411del	NP_006614.2:p.Lys137del
XM_011541226.1:c.631_633del	XP_011539528.1:p.Lys211del
XM_011541227.1:c.553_555del	XP_011539529.1:p.Lys185del
XM_011541228.1:c.520_522del	XP_011539530.1:p.Lys174del
XM_011541229.1:c.346_348del	XP_011539531.1:p.Lys116del
XM_011541230.1:c.124_126del	XP_011539532.1:p.Lys42del
XM_011541231.1:c.115_117del	XP_011539533.1:p.Lys39del
XM_011541226.2:c.631_633del	XP_011539528.1:p.Lys211del
XM_011541227.2:c.553_555del	XP_011539529.1:p.Lys185del
XM_011541228.2:c.520_522del	XP_011539530.1:p.Lys174del
XM_011541231.2:c.115_117del	XP_011539533.1:p.Lys39del
XM_024446338.1:c.520_522del	XP_024302106.1:p.Lys174del
NM_006623.4:c.409_411del MANE Select	NP_006614.2:p.Lys137del