Canonical Allele Identifier: CA320401922

Gene: PIGP

Linked Data

• dbSNP Id: rs111793194
• gnomAD v2: 21-38437750-AAG-A
• gnomAD v3: 21-37065450-AAG-A
• gnomAD v4: 21-37065450-AAG-A
• MyVariant Identifiers: chr21:g.38437751_38437752del (hg19) ; chr21:g.37065451_37065452del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.37065454_37065455del , CM000683.2:g.37065454_37065455del	GRCh38
NC_000021.8:g.38437754_38437755del , CM000683.1:g.38437754_38437755del	GRCh37
NC_000021.7:g.37359624_37359625del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360525.9:c.*130_*131del MANE Select	ENSP00000353719.3:n.*130_*131del
ENST00000329667.7:n.484_485del
ENST00000360525.8:c.*130_*131del	ENSP00000353719.3:n.*130_*131del
ENST00000399098.5:c.*130_*131del	ENSP00000382049.1:n.*130_*131del
ENST00000399102.5:c.*130_*131del	ENSP00000382053.1:n.*130_*131del
ENST00000399103.5:c.*130_*131del	ENSP00000382054.1:n.*130_*131del
ENST00000464265.5:c.*130_*131del	ENSP00000420037.1:n.*130_*131del
NM_153681.2:c.*130_*131del	NP_710148.1:n.*130_*131del
NM_153682.2:c.*130_*131del	NP_710149.1:n.*130_*131del
NR_028352.1:n.882_883del
XM_005260990.3:c.*130_*131del	XP_005261047.1:n.*130_*131del
XM_011529595.1:c.*130_*131del	XP_011527897.1:n.*130_*131del
XM_011529596.1:c.*130_*131del	XP_011527898.1:n.*130_*131del
NM_001320480.1:c.*130_*131del	NP_001307409.1:n.*130_*131del
NM_016430.3:c.*130_*131del	NP_057514.2:n.*130_*131del
XM_017028365.1:c.*130_*131del	XP_016883854.1:n.*130_*131del
NM_001320480.2:c.*130_*131del	NP_001307409.1:n.*130_*131del
NM_016430.4:c.*130_*131del	NP_057514.2:n.*130_*131del
NM_153682.3:c.*130_*131del MANE Select	NP_710149.1:n.*130_*131del