Canonical Allele Identifier: CA2647395547

Gene: PHGDH

Linked Data

• gnomAD v4: 1-119737322-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119737324del , CM000663.2:g.119737324del	GRCh38
NC_000001.10:g.120279947del , CM000663.1:g.120279947del	GRCh37
NC_000001.9:g.120081470del	NCBI36
NG_009188.1:g.30529del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.945+58del	ENSP00000358417.5:n.945+58del
ENST00000641023.2:c.945+58del MANE Select	ENSP00000493175.1:n.945+58del
ENST00000641074.1:c.945+58del	ENSP00000493446.1:n.945+58del
ENST00000641115.1:c.945+58del	ENSP00000493264.1:n.945+58del
ENST00000641213.1:c.*598+58del	ENSP00000493079.1:n.*598+58del
ENST00000641314.1:n.930+58del
ENST00000641375.1:c.*781+58del	ENSP00000493089.1:n.*781+58del
ENST00000641597.1:c.945+58del	ENSP00000493382.1:n.945+58del
ENST00000641756.1:c.*689+58del	ENSP00000493147.1:n.*689+58del
ENST00000641811.1:c.701+58del
ENST00000641891.1:c.*771+58del	ENSP00000493288.1:n.*771+58del
ENST00000641927.1:n.885+58del
ENST00000641939.1:n.48+58del
ENST00000641947.1:c.945+58del	ENSP00000492994.1:n.945+58del
ENST00000642021.1:n.1067+58del
ENST00000369407.3:c.843+58del	ENSP00000358415.3:n.843+58del
ENST00000369409.8:c.945+58del	ENSP00000358417.4:n.945+58del
NM_006623.3:c.945+58del	NP_006614.2:n.945+58del
XM_011541226.1:c.1167+58del	XP_011539528.1:n.1167+58del
XM_011541227.1:c.1089+58del	XP_011539529.1:n.1089+58del
XM_011541228.1:c.1056+58del	XP_011539530.1:n.1056+58del
XM_011541229.1:c.882+58del	XP_011539531.1:n.882+58del
XM_011541230.1:c.660+58del	XP_011539532.1:n.660+58del
XM_011541231.1:c.651+58del	XP_011539533.1:n.651+58del
XM_011541226.2:c.1167+58del	XP_011539528.1:n.1167+58del
XM_011541227.2:c.1089+58del	XP_011539529.1:n.1089+58del
XM_011541228.2:c.1056+58del	XP_011539530.1:n.1056+58del
XM_011541231.2:c.651+58del	XP_011539533.1:n.651+58del
XM_024446338.1:c.1056+58del	XP_024302106.1:n.1056+58del
NM_006623.4:c.945+58del MANE Select	NP_006614.2:n.945+58del