Canonical Allele Identifier: CA4808854

Gene: PDP1

Linked Data

• dbSNP Id: rs772846653
• ExAC: 8:94935877 A / AG
• gnomAD v2: 8-94935877-A-AG
• gnomAD v4: 8-93923649-A-AG
• MyVariant Identifiers: chr8:g.94935877_94935878insG (hg19) ; chr8:g.93923649_93923650insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93923653dup , CM000670.2:g.93923653dup	GRCh38
NC_000008.10:g.94935881dup , CM000670.1:g.94935881dup	GRCh37
NC_000008.9:g.95005057dup	NCBI36
NG_012233.1:g.11720dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297598.5:c.1594dup MANE Select	ENSP00000297598.4:p.Ala532GlyfsTer22
ENST00000297598.4:c.1594dup	ENSP00000297598.4:p.Ala532GlyfsTer22
ENST00000396200.3:c.1669dup	ENSP00000379503.3:p.Ala557GlyfsTer22
ENST00000517764.1:c.1594dup	ENSP00000430380.1:p.Ala532GlyfsTer22
ENST00000520728.5:c.1594dup	ENSP00000428317.1:p.Ala532GlyfsTer22
NM_001161779.1:c.1669dup	NP_001155251.1:p.Ala557GlyfsTer22
NM_001161780.1:c.1669dup	NP_001155252.1:p.Ala557GlyfsTer22
NM_001161781.1:c.1594dup	NP_001155253.1:p.Ala532GlyfsTer22
NM_018444.3:c.1594dup	NP_060914.2:p.Ala532GlyfsTer22
XM_011517135.1:c.1648dup	XP_011515437.1:p.Ala550GlyfsTer22
XM_011517136.1:c.1594dup	XP_011515438.1:p.Ala532GlyfsTer22
XM_011517137.1:c.1594dup	XP_011515439.1:p.Ala532GlyfsTer22
XM_011517135.2:c.1648dup	XP_011515437.1:p.Ala550GlyfsTer22
XM_011517136.2:c.1594dup	XP_011515438.1:p.Ala532GlyfsTer22
XM_017013588.1:c.1756dup	XP_016869077.1:p.Ala586GlyfsTer22
NM_018444.4:c.1594dup MANE Select	NP_060914.2:p.Ala532GlyfsTer22
NM_001161780.2:c.1669dup	NP_001155252.1:p.Ala557GlyfsTer22
NM_001161781.2:c.1594dup	NP_001155253.1:p.Ala532GlyfsTer22
NM_001161779.2:c.1669dup	NP_001155251.1:p.Ala557GlyfsTer22