Canonical Allele Identifier: CA2579206331

Gene: PDP1

Linked Data

• gnomAD v4: 8-93923016-AAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93923020_93923021del , CM000670.2:g.93923020_93923021del	GRCh38
NC_000008.10:g.94935248_94935249del , CM000670.1:g.94935248_94935249del	GRCh37
NC_000008.9:g.95004424_95004425del	NCBI36
NG_012233.1:g.11087_11088del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297598.5:c.961_962del MANE Select	ENSP00000297598.4:p.Glu321ThrfsTer12
ENST00000297598.4:c.961_962del	ENSP00000297598.4:p.Glu321ThrfsTer12
ENST00000396200.3:c.1036_1037del	ENSP00000379503.3:p.Glu346ThrfsTer12
ENST00000517764.1:c.961_962del	ENSP00000430380.1:p.Glu321ThrfsTer12
ENST00000520728.5:c.961_962del	ENSP00000428317.1:p.Glu321ThrfsTer12
NM_001161779.1:c.1036_1037del	NP_001155251.1:p.Glu346ThrfsTer12
NM_001161780.1:c.1036_1037del	NP_001155252.1:p.Glu346ThrfsTer12
NM_001161781.1:c.961_962del	NP_001155253.1:p.Glu321ThrfsTer12
NM_018444.3:c.961_962del	NP_060914.2:p.Glu321ThrfsTer12
XM_011517135.1:c.1015_1016del	XP_011515437.1:p.Glu339ThrfsTer12
XM_011517136.1:c.961_962del	XP_011515438.1:p.Glu321ThrfsTer12
XM_011517137.1:c.961_962del	XP_011515439.1:p.Glu321ThrfsTer12
XM_011517135.2:c.1015_1016del	XP_011515437.1:p.Glu339ThrfsTer12
XM_011517136.2:c.961_962del	XP_011515438.1:p.Glu321ThrfsTer12
XM_017013588.1:c.1123_1124del	XP_016869077.1:p.Glu375ThrfsTer12
NM_018444.4:c.961_962del MANE Select	NP_060914.2:p.Glu321ThrfsTer12
NM_001161780.2:c.1036_1037del	NP_001155252.1:p.Glu346ThrfsTer12
NM_001161781.2:c.961_962del	NP_001155253.1:p.Glu321ThrfsTer12
NM_001161779.2:c.1036_1037del	NP_001155251.1:p.Glu346ThrfsTer12