Canonical Allele Identifier: CA637791436

Gene: PIGP

Linked Data

• dbSNP Id: rs1449968434
• gnomAD v2: 21-38438033-GCT-G
• gnomAD v4: 21-37065733-GCT-G
• MyVariant Identifiers: chr21:g.38438034_38438035del (hg19) ; chr21:g.37065734_37065735del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.37065736_37065737del , CM000683.2:g.37065736_37065737del	GRCh38
NC_000021.8:g.38438036_38438037del , CM000683.1:g.38438036_38438037del	GRCh37
NC_000021.7:g.37359906_37359907del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360525.9:c.275-23_275-22del MANE Select	ENSP00000353719.3:n.275-23_275-22del
ENST00000329667.7:n.224-23_224-22del
ENST00000360525.8:c.275-23_275-22del	ENSP00000353719.3:n.275-23_275-22del
ENST00000399098.5:c.197-23_197-22del	ENSP00000382049.1:n.197-23_197-22del
ENST00000399102.5:c.275-23_275-22del	ENSP00000382053.1:n.275-23_275-22del
ENST00000399103.5:c.275-23_275-22del	ENSP00000382054.1:n.275-23_275-22del
ENST00000464265.5:c.347-23_347-22del	ENSP00000420037.1:n.347-23_347-22del
NM_153681.2:c.347-23_347-22del	NP_710148.1:n.347-23_347-22del
NM_153682.2:c.275-23_275-22del	NP_710149.1:n.275-23_275-22del
NR_028352.1:n.622-23_622-22del
XM_005260990.3:c.275-23_275-22del	XP_005261047.1:n.275-23_275-22del
XM_011529595.1:c.275-23_275-22del	XP_011527897.1:n.275-23_275-22del
XM_011529596.1:c.275-23_275-22del	XP_011527898.1:n.275-23_275-22del
NM_001320480.1:c.275-23_275-22del	NP_001307409.1:n.275-23_275-22del
NM_016430.3:c.197-23_197-22del	NP_057514.2:n.197-23_197-22del
XM_017028365.1:c.197-23_197-22del	XP_016883854.1:n.197-23_197-22del
NM_001320480.2:c.275-23_275-22del	NP_001307409.1:n.275-23_275-22del
NM_016430.4:c.197-23_197-22del	NP_057514.2:n.197-23_197-22del
NM_153682.3:c.275-23_275-22del MANE Select	NP_710149.1:n.275-23_275-22del