Canonical Allele Identifier: CA2781329145

Gene: PDP1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93923408_93923409insTGCATGCCAGTTAGGTACTCAC , CM000670.2:g.93923408_93923409insTGCATGCCAGTTAGGTACTCAC	GRCh38
NC_000008.10:g.94935636_94935637insTGCATGCCAGTTAGGTACTCAC , CM000670.1:g.94935636_94935637insTGCATGCCAGTTAGGTACTCAC	GRCh37
NC_000008.9:g.95004812_95004813insTGCATGCCAGTTAGGTACTCAC	NCBI36
NG_012233.1:g.11475_11476insTGCATGCCAGTTAGGTACTCAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297598.5:c.1349_1350insTGCATGCCAGTTAGGTACTCAC MANE Select	ENSP00000297598.4:p.Tyr451AlafsTer31
ENST00000297598.4:c.1349_1350insTGCATGCCAGTTAGGTACTCAC	ENSP00000297598.4:p.Tyr451AlafsTer31
ENST00000396200.3:c.1424_1425insTGCATGCCAGTTAGGTACTCAC	ENSP00000379503.3:p.Tyr476AlafsTer31
ENST00000517764.1:c.1349_1350insTGCATGCCAGTTAGGTACTCAC	ENSP00000430380.1:p.Tyr451AlafsTer31
ENST00000520728.5:c.1349_1350insTGCATGCCAGTTAGGTACTCAC	ENSP00000428317.1:p.Tyr451AlafsTer31
NM_001161779.1:c.1424_1425insTGCATGCCAGTTAGGTACTCAC	NP_001155251.1:p.Tyr476AlafsTer31
NM_001161780.1:c.1424_1425insTGCATGCCAGTTAGGTACTCAC	NP_001155252.1:p.Tyr476AlafsTer31
NM_001161781.1:c.1349_1350insTGCATGCCAGTTAGGTACTCAC	NP_001155253.1:p.Tyr451AlafsTer31
NM_018444.3:c.1349_1350insTGCATGCCAGTTAGGTACTCAC	NP_060914.2:p.Tyr451AlafsTer31
XM_011517135.1:c.1403_1404insTGCATGCCAGTTAGGTACTCAC	XP_011515437.1:p.Tyr469AlafsTer31
XM_011517136.1:c.1349_1350insTGCATGCCAGTTAGGTACTCAC	XP_011515438.1:p.Tyr451AlafsTer31
XM_011517137.1:c.1349_1350insTGCATGCCAGTTAGGTACTCAC	XP_011515439.1:p.Tyr451AlafsTer31
XM_011517135.2:c.1403_1404insTGCATGCCAGTTAGGTACTCAC	XP_011515437.1:p.Tyr469AlafsTer31
XM_011517136.2:c.1349_1350insTGCATGCCAGTTAGGTACTCAC	XP_011515438.1:p.Tyr451AlafsTer31
XM_017013588.1:c.1511_1512insTGCATGCCAGTTAGGTACTCAC	XP_016869077.1:p.Tyr505AlafsTer31
NM_018444.4:c.1349_1350insTGCATGCCAGTTAGGTACTCAC MANE Select	NP_060914.2:p.Tyr451AlafsTer31
NM_001161780.2:c.1424_1425insTGCATGCCAGTTAGGTACTCAC	NP_001155252.1:p.Tyr476AlafsTer31
NM_001161781.2:c.1349_1350insTGCATGCCAGTTAGGTACTCAC	NP_001155253.1:p.Tyr451AlafsTer31
NM_001161779.2:c.1424_1425insTGCATGCCAGTTAGGTACTCAC	NP_001155251.1:p.Tyr476AlafsTer31