Canonical Allele Identifier: CA637791396

Gene: PIGP

Linked Data

• dbSNP Id: rs1239753543
• gnomAD v2: 21-38437837-CTT-C
• gnomAD v4: 21-37065537-CTT-C
• MyVariant Identifiers: chr21:g.38437838_38437839del (hg19) ; chr21:g.37065538_37065539del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.37065538_37065539del , CM000683.2:g.37065538_37065539del	GRCh38
NC_000021.8:g.38437838_38437839del , CM000683.1:g.38437838_38437839del	GRCh37
NC_000021.7:g.37359708_37359709del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360525.9:c.*43_*44del MANE Select	ENSP00000353719.3:n.*43_*44del
ENST00000329667.7:n.397_398del
ENST00000360525.8:c.*43_*44del	ENSP00000353719.3:n.*43_*44del
ENST00000399098.5:c.*43_*44del	ENSP00000382049.1:n.*43_*44del
ENST00000399102.5:c.*43_*44del	ENSP00000382053.1:n.*43_*44del
ENST00000399103.5:c.*43_*44del	ENSP00000382054.1:n.*43_*44del
ENST00000464265.5:c.*43_*44del	ENSP00000420037.1:n.*43_*44del
NM_153681.2:c.*43_*44del	NP_710148.1:n.*43_*44del
NM_153682.2:c.*43_*44del	NP_710149.1:n.*43_*44del
NR_028352.1:n.795_796del
XM_005260990.3:c.*43_*44del	XP_005261047.1:n.*43_*44del
XM_011529595.1:c.*43_*44del	XP_011527897.1:n.*43_*44del
XM_011529596.1:c.*43_*44del	XP_011527898.1:n.*43_*44del
NM_001320480.1:c.*43_*44del	NP_001307409.1:n.*43_*44del
NM_016430.3:c.*43_*44del	NP_057514.2:n.*43_*44del
XM_017028365.1:c.*43_*44del	XP_016883854.1:n.*43_*44del
NM_001320480.2:c.*43_*44del	NP_001307409.1:n.*43_*44del
NM_016430.4:c.*43_*44del	NP_057514.2:n.*43_*44del
NM_153682.3:c.*43_*44del MANE Select	NP_710149.1:n.*43_*44del