Canonical Allele Identifier: CA2584357471

Gene: GPI

Linked Data

• gnomAD v4: 19-34399581-ACT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.34399584_34399585del , CM000681.2:g.34399584_34399585del	GRCh38
NC_000019.9:g.34890489_34890490del , CM000681.1:g.34890489_34890490del	GRCh37
NC_000019.8:g.39582329_39582330del	NCBI36
NG_012838.2:g.39845_39846del
NG_012838.3:g.44993_44994del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356487.11:c.1427_1428del MANE Select	ENSP00000348877.3:p.Ser476TyrfsTer19
ENST00000415930.8:c.1544_1545del	ENSP00000405573.3:p.Ser515TyrfsTer19
ENST00000586425.2:c.1158-152_1158-151del
ENST00000588991.7:c.1460_1461del	ENSP00000465858.3:p.Ser487TyrfsTer19
ENST00000643067.1:n.2472_2473del
ENST00000647446.1:c.*478_*479del	ENSP00000495129.1:n.*478_*479del
ENST00000356487.9:c.1427_1428del	ENSP00000348877.3:p.Ser476TyrfsTer19
ENST00000415930.7:c.1460_1461del	ENSP00000405573.2:p.Ser487TyrfsTer19
ENST00000586077.1:n.2302_2303del
ENST00000586392.1:n.1165_1166del
ENST00000586425.1:c.1398+249_1398+250del	ENSP00000467670.2:n.1398+249_1398+250del
ENST00000588991.6:c.1472_1473del	ENSP00000465858.2:p.Ser491TyrfsTer19
ENST00000592740.5:c.193+2927_193+2928del
NM_000175.3:c.1427_1428del	NP_000166.2:p.Ser476TyrfsTer19
NM_001184722.1:c.1460_1461del	NP_001171651.1:p.Ser487TyrfsTer19
NM_001289789.1:c.1544_1545del	NP_001276718.1:p.Ser515TyrfsTer19
NM_001289790.1:c.1343_1344del	NP_001276719.1:p.Ser448TyrfsTer19
XM_005258764.1:c.1427_1428del	XP_005258821.1:p.Ser476TyrfsTer19
XM_006723148.1:c.1427_1428del	XP_006723211.1:p.Ser476TyrfsTer19
XM_011526754.1:c.1544_1545del	XP_011525056.1:p.Ser515TyrfsTer19
NM_000175.5:c.1427_1428del MANE Select	NP_000166.2:p.Ser476TyrfsTer19
NM_001289790.2:c.1343_1344del	NP_001276719.1:p.Ser448TyrfsTer19
NM_001329909.1:c.1427_1428del	NP_001316838.1:p.Ser476TyrfsTer19
NM_001329910.1:c.1427_1428del	NP_001316839.1:p.Ser476TyrfsTer19
NM_001329911.1:c.1400_1401del	NP_001316840.1:p.Ser467TyrfsTer19
XM_011526754.3:c.1544_1545del	XP_011525056.1:p.Ser515TyrfsTer19
NM_001289790.3:c.1343_1344del	NP_001276719.1:p.Ser448TyrfsTer19
NM_001329911.2:c.1400_1401del	NP_001316840.1:p.Ser467TyrfsTer19