Canonical Allele Identifier: CA2576748693
Gene: GPI HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.34399903_34399904del , CM000681.2:g.34399903_34399904del GRCh38
NC_000019.9:g.34890808_34890809del , CM000681.1:g.34890808_34890809del GRCh37
NC_000019.8:g.39582648_39582649del NCBI36
NG_012838.2:g.40164_40165del
NG_012838.3:g.45312_45313del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356487.11:c.1544_1545del MANE Select ENSP00000348877.3:p.Val515GlyfsTer8
ENST00000415930.8:c.1661_1662del ENSP00000405573.3:p.Val554GlyfsTer8
ENST00000586425.2:c.1210_1211del
ENST00000588991.7:c.1577_1578del ENSP00000465858.3:p.Val526GlyfsTer8
ENST00000643067.1:n.2589_2590del
ENST00000647446.1:c.*595_*596del ENSP00000495129.1:n.*595_*596del
ENST00000356487.9:c.1544_1545del ENSP00000348877.3:p.Val515GlyfsTer8
ENST00000415930.7:c.1577_1578del ENSP00000405573.2:p.Val526GlyfsTer8
ENST00000586077.1:n.2621_2622del
ENST00000586392.1:n.1282_1283del
ENST00000586425.1:c.1401_1402del ENSP00000467670.2:p.Ser467ArgfsTer11
ENST00000588991.6:c.1589_1590del ENSP00000465858.2:p.Val530GlyfsTer8
ENST00000592740.5:c.193+3246_193+3247del
NM_000175.3:c.1544_1545del NP_000166.2:p.Val515GlyfsTer8
NM_001184722.1:c.1577_1578del NP_001171651.1:p.Val526GlyfsTer8
NM_001289789.1:c.1661_1662del NP_001276718.1:p.Val554GlyfsTer8
NM_001289790.1:c.1460_1461del NP_001276719.1:p.Val487GlyfsTer8
XM_005258764.1:c.1544_1545del XP_005258821.1:p.Val515GlyfsTer8
XM_006723148.1:c.1544_1545del XP_006723211.1:p.Val515GlyfsTer8
XM_011526754.1:c.1661_1662del XP_011525056.1:p.Val554GlyfsTer8
NM_000175.5:c.1544_1545del MANE Select NP_000166.2:p.Val515GlyfsTer8
NM_001289790.2:c.1460_1461del NP_001276719.1:p.Val487GlyfsTer8
NM_001329909.1:c.1544_1545del NP_001316838.1:p.Val515GlyfsTer8
NM_001329910.1:c.1544_1545del NP_001316839.1:p.Val515GlyfsTer8
NM_001329911.1:c.1517_1518del NP_001316840.1:p.Val506GlyfsTer8
XM_011526754.3:c.1661_1662del XP_011525056.1:p.Val554GlyfsTer8
NM_001289790.3:c.1460_1461del NP_001276719.1:p.Val487GlyfsTer8
NM_001329911.2:c.1517_1518del NP_001316840.1:p.Val506GlyfsTer8