Canonical Allele Identifier: CA2687927849

Gene: PDP1

Linked Data

• gnomAD v4: 8-93922983-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93922984dup , CM000670.2:g.93922984dup	GRCh38
NC_000008.10:g.94935212dup , CM000670.1:g.94935212dup	GRCh37
NC_000008.9:g.95004388dup	NCBI36
NG_012233.1:g.11051dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297598.5:c.925dup MANE Select	ENSP00000297598.4:p.Thr309AsnfsTer4
ENST00000297598.4:c.925dup	ENSP00000297598.4:p.Thr309AsnfsTer4
ENST00000396200.3:c.1000dup	ENSP00000379503.3:p.Thr334AsnfsTer4
ENST00000517764.1:c.925dup	ENSP00000430380.1:p.Thr309AsnfsTer4
ENST00000520728.5:c.925dup	ENSP00000428317.1:p.Thr309AsnfsTer4
NM_001161779.1:c.1000dup	NP_001155251.1:p.Thr334AsnfsTer4
NM_001161780.1:c.1000dup	NP_001155252.1:p.Thr334AsnfsTer4
NM_001161781.1:c.925dup	NP_001155253.1:p.Thr309AsnfsTer4
NM_018444.3:c.925dup	NP_060914.2:p.Thr309AsnfsTer4
XM_011517135.1:c.979dup	XP_011515437.1:p.Thr327AsnfsTer4
XM_011517136.1:c.925dup	XP_011515438.1:p.Thr309AsnfsTer4
XM_011517137.1:c.925dup	XP_011515439.1:p.Thr309AsnfsTer4
XM_011517135.2:c.979dup	XP_011515437.1:p.Thr327AsnfsTer4
XM_011517136.2:c.925dup	XP_011515438.1:p.Thr309AsnfsTer4
XM_017013588.1:c.1087dup	XP_016869077.1:p.Thr363AsnfsTer4
NM_018444.4:c.925dup MANE Select	NP_060914.2:p.Thr309AsnfsTer4
NM_001161780.2:c.1000dup	NP_001155252.1:p.Thr334AsnfsTer4
NM_001161781.2:c.925dup	NP_001155253.1:p.Thr309AsnfsTer4
NM_001161779.2:c.1000dup	NP_001155251.1:p.Thr334AsnfsTer4