Canonical Allele Identifier: CA2687927853

Gene: PDP1

Linked Data

• gnomAD v4: 8-93923051-AGAGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93923055_93923058del , CM000670.2:g.93923055_93923058del	GRCh38
NC_000008.10:g.94935283_94935286del , CM000670.1:g.94935283_94935286del	GRCh37
NC_000008.9:g.95004459_95004462del	NCBI36
NG_012233.1:g.11122_11125del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297598.5:c.996_999del MANE Select	ENSP00000297598.4:p.Ser332ArgfsTer6
ENST00000297598.4:c.996_999del	ENSP00000297598.4:p.Ser332ArgfsTer6
ENST00000396200.3:c.1071_1074del	ENSP00000379503.3:p.Ser357ArgfsTer6
ENST00000517764.1:c.996_999del	ENSP00000430380.1:p.Ser332ArgfsTer6
ENST00000520728.5:c.996_999del	ENSP00000428317.1:p.Ser332ArgfsTer6
NM_001161779.1:c.1071_1074del	NP_001155251.1:p.Ser357ArgfsTer6
NM_001161780.1:c.1071_1074del	NP_001155252.1:p.Ser357ArgfsTer6
NM_001161781.1:c.996_999del	NP_001155253.1:p.Ser332ArgfsTer6
NM_018444.3:c.996_999del	NP_060914.2:p.Ser332ArgfsTer6
XM_011517135.1:c.1050_1053del	XP_011515437.1:p.Ser350ArgfsTer6
XM_011517136.1:c.996_999del	XP_011515438.1:p.Ser332ArgfsTer6
XM_011517137.1:c.996_999del	XP_011515439.1:p.Ser332ArgfsTer6
XM_011517135.2:c.1050_1053del	XP_011515437.1:p.Ser350ArgfsTer6
XM_011517136.2:c.996_999del	XP_011515438.1:p.Ser332ArgfsTer6
XM_017013588.1:c.1158_1161del	XP_016869077.1:p.Ser386ArgfsTer6
NM_018444.4:c.996_999del MANE Select	NP_060914.2:p.Ser332ArgfsTer6
NM_001161780.2:c.1071_1074del	NP_001155252.1:p.Ser357ArgfsTer6
NM_001161781.2:c.996_999del	NP_001155253.1:p.Ser332ArgfsTer6
NM_001161779.2:c.1071_1074del	NP_001155251.1:p.Ser357ArgfsTer6