Canonical Allele Identifier: CA4808777

Gene: PDP1

Linked Data

• dbSNP Id: rs774046054
• ExAC: 8:94935319 TG / T
• gnomAD v2: 8-94935319-TG-T
• gnomAD v4: 8-93923091-TG-T
• MyVariant Identifiers: chr8:g.94935320del (hg19) ; chr8:g.93923092del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93923093del , CM000670.2:g.93923093del	GRCh38
NC_000008.10:g.94935321del , CM000670.1:g.94935321del	GRCh37
NC_000008.9:g.95004497del	NCBI36
NG_012233.1:g.11160del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297598.5:c.1034del MANE Select	ENSP00000297598.4:p.Gly345AlafsTer3
ENST00000297598.4:c.1034del	ENSP00000297598.4:p.Gly345AlafsTer3
ENST00000396200.3:c.1109del	ENSP00000379503.3:p.Gly370AlafsTer3
ENST00000517764.1:c.1034del	ENSP00000430380.1:p.Gly345AlafsTer3
ENST00000520728.5:c.1034del	ENSP00000428317.1:p.Gly345AlafsTer3
NM_001161779.1:c.1109del	NP_001155251.1:p.Gly370AlafsTer3
NM_001161780.1:c.1109del	NP_001155252.1:p.Gly370AlafsTer3
NM_001161781.1:c.1034del	NP_001155253.1:p.Gly345AlafsTer3
NM_018444.3:c.1034del	NP_060914.2:p.Gly345AlafsTer3
XM_011517135.1:c.1088del	XP_011515437.1:p.Gly363AlafsTer3
XM_011517136.1:c.1034del	XP_011515438.1:p.Gly345AlafsTer3
XM_011517137.1:c.1034del	XP_011515439.1:p.Gly345AlafsTer3
XM_011517135.2:c.1088del	XP_011515437.1:p.Gly363AlafsTer3
XM_011517136.2:c.1034del	XP_011515438.1:p.Gly345AlafsTer3
XM_017013588.1:c.1196del	XP_016869077.1:p.Gly399AlafsTer3
NM_018444.4:c.1034del MANE Select	NP_060914.2:p.Gly345AlafsTer3
NM_001161780.2:c.1109del	NP_001155252.1:p.Gly370AlafsTer3
NM_001161781.2:c.1034del	NP_001155253.1:p.Gly345AlafsTer3
NM_001161779.2:c.1109del	NP_001155251.1:p.Gly370AlafsTer3