Canonical Allele Identifier: CA512083189

Gene: PIGP

Linked Data

• dbSNP Id: rs2069892189
• gnomAD v4: 21-37065767-CTG-C
• MyVariant Identifiers: chr21:g.38438068_38438069del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.37065771_37065772del , CM000683.2:g.37065771_37065772del	GRCh38
NC_000021.8:g.38438071_38438072del , CM000683.1:g.38438071_38438072del	GRCh37
NC_000021.7:g.37359941_37359942del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360525.9:c.275-57_275-56del MANE Select	ENSP00000353719.3:n.275-57_275-56del
ENST00000329667.7:n.224-57_224-56del
ENST00000360525.8:c.275-57_275-56del	ENSP00000353719.3:n.275-57_275-56del
ENST00000399098.5:c.197-57_197-56del	ENSP00000382049.1:n.197-57_197-56del
ENST00000399102.5:c.275-57_275-56del	ENSP00000382053.1:n.275-57_275-56del
ENST00000399103.5:c.275-57_275-56del	ENSP00000382054.1:n.275-57_275-56del
ENST00000464265.5:c.347-57_347-56del	ENSP00000420037.1:n.347-57_347-56del
NM_153681.2:c.347-57_347-56del	NP_710148.1:n.347-57_347-56del
NM_153682.2:c.275-57_275-56del	NP_710149.1:n.275-57_275-56del
NR_028352.1:n.622-57_622-56del
XM_005260990.3:c.275-57_275-56del	XP_005261047.1:n.275-57_275-56del
XM_011529595.1:c.275-57_275-56del	XP_011527897.1:n.275-57_275-56del
XM_011529596.1:c.275-57_275-56del	XP_011527898.1:n.275-57_275-56del
NM_001320480.1:c.275-57_275-56del	NP_001307409.1:n.275-57_275-56del
NM_016430.3:c.197-57_197-56del	NP_057514.2:n.197-57_197-56del
XM_017028365.1:c.197-57_197-56del	XP_016883854.1:n.197-57_197-56del
NM_001320480.2:c.275-57_275-56del	NP_001307409.1:n.275-57_275-56del
NM_016430.4:c.197-57_197-56del	NP_057514.2:n.197-57_197-56del
NM_153682.3:c.275-57_275-56del MANE Select	NP_710149.1:n.275-57_275-56del