Canonical Allele Identifier: CA2687927865

Gene: PDP1

Linked Data

• gnomAD v4: 8-93923207-A-ACTTG

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93923207_93923208insCTTG , CM000670.2:g.93923207_93923208insCTTG	GRCh38
NC_000008.10:g.94935435_94935436insCTTG , CM000670.1:g.94935435_94935436insCTTG	GRCh37
NC_000008.9:g.95004611_95004612insCTTG	NCBI36
NG_012233.1:g.11274_11275insCTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297598.5:c.1148_1149insCTTG MANE Select	ENSP00000297598.4:p.Lys383AsnfsTer7
ENST00000297598.4:c.1148_1149insCTTG	ENSP00000297598.4:p.Lys383AsnfsTer7
ENST00000396200.3:c.1223_1224insCTTG	ENSP00000379503.3:p.Lys408AsnfsTer7
ENST00000517764.1:c.1148_1149insCTTG	ENSP00000430380.1:p.Lys383AsnfsTer7
ENST00000520728.5:c.1148_1149insCTTG	ENSP00000428317.1:p.Lys383AsnfsTer7
NM_001161779.1:c.1223_1224insCTTG	NP_001155251.1:p.Lys408AsnfsTer7
NM_001161780.1:c.1223_1224insCTTG	NP_001155252.1:p.Lys408AsnfsTer7
NM_001161781.1:c.1148_1149insCTTG	NP_001155253.1:p.Lys383AsnfsTer7
NM_018444.3:c.1148_1149insCTTG	NP_060914.2:p.Lys383AsnfsTer7
XM_011517135.1:c.1202_1203insCTTG	XP_011515437.1:p.Lys401AsnfsTer7
XM_011517136.1:c.1148_1149insCTTG	XP_011515438.1:p.Lys383AsnfsTer7
XM_011517137.1:c.1148_1149insCTTG	XP_011515439.1:p.Lys383AsnfsTer7
XM_011517135.2:c.1202_1203insCTTG	XP_011515437.1:p.Lys401AsnfsTer7
XM_011517136.2:c.1148_1149insCTTG	XP_011515438.1:p.Lys383AsnfsTer7
XM_017013588.1:c.1310_1311insCTTG	XP_016869077.1:p.Lys437AsnfsTer7
NM_018444.4:c.1148_1149insCTTG MANE Select	NP_060914.2:p.Lys383AsnfsTer7
NM_001161780.2:c.1223_1224insCTTG	NP_001155252.1:p.Lys408AsnfsTer7
NM_001161781.2:c.1148_1149insCTTG	NP_001155253.1:p.Lys383AsnfsTer7
NM_001161779.2:c.1223_1224insCTTG	NP_001155251.1:p.Lys408AsnfsTer7