Canonical Allele Identifier: CA10021019

Gene: PIGP

Linked Data

• ClinVar Variation Id: 397552
• ClinVar RCV Id: RCV000449561 ; RCV000496365 ; RCV001543513
• dbSNP Id: rs778481061
• ExAC: 21:38437902 CT / C
• gnomAD v2: 21-38437902-CT-C
• gnomAD v3: 21-37065602-CT-C
• gnomAD v4: 21-37065602-CT-C
• MyVariant Identifiers: chr21:g.38437903del (hg19) ; chr21:g.37065603del (hg38)
• PubMed: PMID:28334793

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.37065605del , CM000683.2:g.37065605del	GRCh38
NC_000021.8:g.38437905del , CM000683.1:g.38437905del	GRCh37
NC_000021.7:g.37359775del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360525.9:c.384del MANE Select	ENSP00000353719.3:p.Glu129AsnfsTer?
ENST00000329667.7:n.333del
ENST00000360525.8:c.384del	ENSP00000353719.3:p.Glu129AsnfsTer?
ENST00000399098.5:c.306del	ENSP00000382049.1:p.Glu103AsnfsTer?
ENST00000399102.5:c.384del	ENSP00000382053.1:p.Glu129AsnfsTer?
ENST00000399103.5:c.384del	ENSP00000382054.1:p.Glu129AsnfsTer?
ENST00000464265.5:c.456del	ENSP00000420037.1:p.Glu153AsnfsTer?
NM_153681.2:c.456del	NP_710148.1:p.Glu153AsnfsTer?
NM_153682.2:c.384del	NP_710149.1:p.Glu129AsnfsTer?
NR_028352.1:n.731del
XM_005260990.3:c.384del	XP_005261047.1:p.Glu129AsnfsTer?
XM_011529595.1:c.384del	XP_011527897.1:p.Glu129AsnfsTer?
XM_011529596.1:c.384del	XP_011527898.1:p.Glu129AsnfsTer?
NM_001320480.1:c.384del	NP_001307409.1:p.Glu129AsnfsTer?
NM_016430.3:c.306del	NP_057514.2:p.Glu103AsnfsTer?
XM_017028365.1:c.306del	XP_016883854.1:p.Glu103AsnfsTer?
NM_001320480.2:c.384del	NP_001307409.1:p.Glu129AsnfsTer?
NM_016430.4:c.306del	NP_057514.2:p.Glu103AsnfsTer?
NM_153682.3:c.384del MANE Select	NP_710149.1:p.Glu129AsnfsTer?