Canonical Allele Identifier: CA2647395518

Gene: PHGDH

Linked Data

• gnomAD v4: 1-119737302-CAGAGGGAGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119737308_119737316del , CM000663.2:g.119737308_119737316del	GRCh38
NC_000001.10:g.120279931_120279939del , CM000663.1:g.120279931_120279939del	GRCh37
NC_000001.9:g.120081454_120081462del	NCBI36
NG_009188.1:g.30513_30521del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369409.9:c.945+42_945+50del	ENSP00000358417.5:n.945+42_945+50del
ENST00000641023.2:c.945+42_945+50del MANE Select	ENSP00000493175.1:n.945+42_945+50del
ENST00000641074.1:c.945+42_945+50del	ENSP00000493446.1:n.945+42_945+50del
ENST00000641115.1:c.945+42_945+50del	ENSP00000493264.1:n.945+42_945+50del
ENST00000641213.1:c.*598+42_*598+50del	ENSP00000493079.1:n.*598+42_*598+50del
ENST00000641314.1:n.930+42_930+50del
ENST00000641375.1:c.*781+42_*781+50del	ENSP00000493089.1:n.*781+42_*781+50del
ENST00000641597.1:c.945+42_945+50del	ENSP00000493382.1:n.945+42_945+50del
ENST00000641756.1:c.*689+42_*689+50del	ENSP00000493147.1:n.*689+42_*689+50del
ENST00000641811.1:c.701+42_701+50del
ENST00000641891.1:c.*771+42_*771+50del	ENSP00000493288.1:n.*771+42_*771+50del
ENST00000641927.1:n.885+42_885+50del
ENST00000641939.1:n.48+42_48+50del
ENST00000641947.1:c.945+42_945+50del	ENSP00000492994.1:n.945+42_945+50del
ENST00000642021.1:n.1067+42_1067+50del
ENST00000369407.3:c.843+42_843+50del	ENSP00000358415.3:n.843+42_843+50del
ENST00000369409.8:c.945+42_945+50del	ENSP00000358417.4:n.945+42_945+50del
NM_006623.3:c.945+42_945+50del	NP_006614.2:n.945+42_945+50del
XM_011541226.1:c.1167+42_1167+50del	XP_011539528.1:n.1167+42_1167+50del
XM_011541227.1:c.1089+42_1089+50del	XP_011539529.1:n.1089+42_1089+50del
XM_011541228.1:c.1056+42_1056+50del	XP_011539530.1:n.1056+42_1056+50del
XM_011541229.1:c.882+42_882+50del	XP_011539531.1:n.882+42_882+50del
XM_011541230.1:c.660+42_660+50del	XP_011539532.1:n.660+42_660+50del
XM_011541231.1:c.651+42_651+50del	XP_011539533.1:n.651+42_651+50del
XM_011541226.2:c.1167+42_1167+50del	XP_011539528.1:n.1167+42_1167+50del
XM_011541227.2:c.1089+42_1089+50del	XP_011539529.1:n.1089+42_1089+50del
XM_011541228.2:c.1056+42_1056+50del	XP_011539530.1:n.1056+42_1056+50del
XM_011541231.2:c.651+42_651+50del	XP_011539533.1:n.651+42_651+50del
XM_024446338.1:c.1056+42_1056+50del	XP_024302106.1:n.1056+42_1056+50del
NM_006623.4:c.945+42_945+50del MANE Select	NP_006614.2:n.945+42_945+50del