Canonical Allele Identifier: CA857071939

Gene: PDP1

Linked Data

• dbSNP Id: rs1419977863
• gnomAD v3: 8-93923458-AC-A
• gnomAD v4: 8-93923458-AC-A
• MyVariant Identifiers: chr8:g.94935687del (hg19) ; chr8:g.93923459del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93923460del , CM000670.2:g.93923460del	GRCh38
NC_000008.10:g.94935688del , CM000670.1:g.94935688del	GRCh37
NC_000008.9:g.95004864del	NCBI36
NG_012233.1:g.11527del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297598.5:c.1401del MANE Select	ENSP00000297598.4:p.Met469CysfsTer?
ENST00000297598.4:c.1401del	ENSP00000297598.4:p.Met469CysfsTer?
ENST00000396200.3:c.1476del	ENSP00000379503.3:p.Met494CysfsTer?
ENST00000517764.1:c.1401del	ENSP00000430380.1:p.Met469CysfsTer?
ENST00000520728.5:c.1401del	ENSP00000428317.1:p.Met469CysfsTer?
NM_001161779.1:c.1476del	NP_001155251.1:p.Met494CysfsTer?
NM_001161780.1:c.1476del	NP_001155252.1:p.Met494CysfsTer?
NM_001161781.1:c.1401del	NP_001155253.1:p.Met469CysfsTer?
NM_018444.3:c.1401del	NP_060914.2:p.Met469CysfsTer?
XM_011517135.1:c.1455del	XP_011515437.1:p.Met487CysfsTer?
XM_011517136.1:c.1401del	XP_011515438.1:p.Met469CysfsTer?
XM_011517137.1:c.1401del	XP_011515439.1:p.Met469CysfsTer?
XM_011517135.2:c.1455del	XP_011515437.1:p.Met487CysfsTer?
XM_011517136.2:c.1401del	XP_011515438.1:p.Met469CysfsTer?
XM_017013588.1:c.1563del	XP_016869077.1:p.Met523CysfsTer?
NM_018444.4:c.1401del MANE Select	NP_060914.2:p.Met469CysfsTer?
NM_001161780.2:c.1476del	NP_001155252.1:p.Met494CysfsTer?
NM_001161781.2:c.1401del	NP_001155253.1:p.Met469CysfsTer?
NM_001161779.2:c.1476del	NP_001155251.1:p.Met494CysfsTer?