Canonical Allele Identifier: CA4808834

Gene: PDP1

Linked Data

• dbSNP Id: rs771873073
• ExAC: 8:94935739 CCACGCTGTGGGCAA / C
• gnomAD v2: 8-94935739-CCACGCTGTGGGCAA-C
• gnomAD v4: 8-93923511-CCACGCTGTGGGCAA-C
• MyVariant Identifiers: chr8:g.94935740_94935753del (hg19) ; chr8:g.93923512_93923525del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.93923514_93923527del , CM000670.2:g.93923514_93923527del	GRCh38
NC_000008.10:g.94935742_94935755del , CM000670.1:g.94935742_94935755del	GRCh37
NC_000008.9:g.95004918_95004931del	NCBI36
NG_012233.1:g.11581_11594del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297598.5:c.1455_1468del MANE Select	ENSP00000297598.4:p.His485GlnfsTer7
ENST00000297598.4:c.1455_1468del	ENSP00000297598.4:p.His485GlnfsTer7
ENST00000396200.3:c.1530_1543del	ENSP00000379503.3:p.His510GlnfsTer7
ENST00000517764.1:c.1455_1468del	ENSP00000430380.1:p.His485GlnfsTer7
ENST00000520728.5:c.1455_1468del	ENSP00000428317.1:p.His485GlnfsTer7
NM_001161779.1:c.1530_1543del	NP_001155251.1:p.His510GlnfsTer7
NM_001161780.1:c.1530_1543del	NP_001155252.1:p.His510GlnfsTer7
NM_001161781.1:c.1455_1468del	NP_001155253.1:p.His485GlnfsTer7
NM_018444.3:c.1455_1468del	NP_060914.2:p.His485GlnfsTer7
XM_011517135.1:c.1509_1522del	XP_011515437.1:p.His503GlnfsTer7
XM_011517136.1:c.1455_1468del	XP_011515438.1:p.His485GlnfsTer7
XM_011517137.1:c.1455_1468del	XP_011515439.1:p.His485GlnfsTer7
XM_011517135.2:c.1509_1522del	XP_011515437.1:p.His503GlnfsTer7
XM_011517136.2:c.1455_1468del	XP_011515438.1:p.His485GlnfsTer7
XM_017013588.1:c.1617_1630del	XP_016869077.1:p.His539GlnfsTer7
NM_018444.4:c.1455_1468del MANE Select	NP_060914.2:p.His485GlnfsTer7
NM_001161780.2:c.1530_1543del	NP_001155252.1:p.His510GlnfsTer7
NM_001161781.2:c.1455_1468del	NP_001155253.1:p.His485GlnfsTer7
NM_001161779.2:c.1530_1543del	NP_001155251.1:p.His510GlnfsTer7