Canonical Allele Identifier: CA583844367

Gene: PDP1

Linked Data

• dbSNP Id: rs1421851629
• gnomAD v2: 8-94935869-CAT-C
• gnomAD v4: 8-93923641-CAT-C
• MyVariant Identifiers: chr8:g.94935870_94935871del (hg19) ; chr8:g.93923642_93923643del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93923642_93923643del , CM000670.2:g.93923642_93923643del	GRCh38
NC_000008.10:g.94935870_94935871del , CM000670.1:g.94935870_94935871del	GRCh37
NC_000008.9:g.95005046_95005047del	NCBI36
NG_012233.1:g.11709_11710del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297598.5:c.1583_1584del MANE Select	ENSP00000297598.4:p.His528ArgfsTer25
ENST00000297598.4:c.1583_1584del	ENSP00000297598.4:p.His528ArgfsTer25
ENST00000396200.3:c.1658_1659del	ENSP00000379503.3:p.His553ArgfsTer25
ENST00000517764.1:c.1583_1584del	ENSP00000430380.1:p.His528ArgfsTer25
ENST00000520728.5:c.1583_1584del	ENSP00000428317.1:p.His528ArgfsTer25
NM_001161779.1:c.1658_1659del	NP_001155251.1:p.His553ArgfsTer25
NM_001161780.1:c.1658_1659del	NP_001155252.1:p.His553ArgfsTer25
NM_001161781.1:c.1583_1584del	NP_001155253.1:p.His528ArgfsTer25
NM_018444.3:c.1583_1584del	NP_060914.2:p.His528ArgfsTer25
XM_011517135.1:c.1637_1638del	XP_011515437.1:p.His546ArgfsTer25
XM_011517136.1:c.1583_1584del	XP_011515438.1:p.His528ArgfsTer25
XM_011517137.1:c.1583_1584del	XP_011515439.1:p.His528ArgfsTer25
XM_011517135.2:c.1637_1638del	XP_011515437.1:p.His546ArgfsTer25
XM_011517136.2:c.1583_1584del	XP_011515438.1:p.His528ArgfsTer25
XM_017013588.1:c.1745_1746del	XP_016869077.1:p.His582ArgfsTer25
NM_018444.4:c.1583_1584del MANE Select	NP_060914.2:p.His528ArgfsTer25
NM_001161780.2:c.1658_1659del	NP_001155252.1:p.His553ArgfsTer25
NM_001161781.2:c.1583_1584del	NP_001155253.1:p.His528ArgfsTer25
NM_001161779.2:c.1658_1659del	NP_001155251.1:p.His553ArgfsTer25