Canonical Allele Identifier: CA9367456

Gene: GPI

Linked Data

• dbSNP Id: rs766887088
• ExAC: 19:34890654 GCAT / G
• gnomAD v2: 19-34890654-GCAT-G
• gnomAD v4: 19-34399749-GCAT-G
• MyVariant Identifiers: chr19:g.34890655_34890657del (hg19) ; chr19:g.34399750_34399752del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.34399754_34399756del , CM000681.2:g.34399754_34399756del	GRCh38
NC_000019.9:g.34890659_34890661del , CM000681.1:g.34890659_34890661del	GRCh37
NC_000019.8:g.39582499_39582501del	NCBI36
NG_012838.2:g.40015_40017del
NG_012838.3:g.45163_45165del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356487.11:c.1510_1512del MANE Select	ENSP00000348877.3:p.Ile504del
ENST00000415930.8:c.1627_1629del	ENSP00000405573.3:p.Ile543del
ENST00000586425.2:c.1176_1178del
ENST00000588991.7:c.1543_1545del	ENSP00000465858.3:p.Ile515del
ENST00000643067.1:n.2555_2557del
ENST00000647446.1:c.*561_*563del	ENSP00000495129.1:n.*561_*563del
ENST00000356487.9:c.1510_1512del	ENSP00000348877.3:p.Ile504del
ENST00000415930.7:c.1543_1545del	ENSP00000405573.2:p.Ile515del
ENST00000586077.1:n.2472_2474del
ENST00000586392.1:n.1248_1250del
ENST00000586425.1:c.1399-147_1399-145del	ENSP00000467670.2:n.1399-147_1399-145del
ENST00000588991.6:c.1555_1557del	ENSP00000465858.2:p.Ile519del
ENST00000592740.5:c.193+3097_193+3099del
NM_000175.3:c.1510_1512del	NP_000166.2:p.Ile504del
NM_001184722.1:c.1543_1545del	NP_001171651.1:p.Ile515del
NM_001289789.1:c.1627_1629del	NP_001276718.1:p.Ile543del
NM_001289790.1:c.1426_1428del	NP_001276719.1:p.Ile476del
XM_005258764.1:c.1510_1512del	XP_005258821.1:p.Ile504del
XM_006723148.1:c.1510_1512del	XP_006723211.1:p.Ile504del
XM_011526754.1:c.1627_1629del	XP_011525056.1:p.Ile543del
NM_000175.5:c.1510_1512del MANE Select	NP_000166.2:p.Ile504del
NM_001289790.2:c.1426_1428del	NP_001276719.1:p.Ile476del
NM_001329909.1:c.1510_1512del	NP_001316838.1:p.Ile504del
NM_001329910.1:c.1510_1512del	NP_001316839.1:p.Ile504del
NM_001329911.1:c.1483_1485del	NP_001316840.1:p.Ile495del
XM_011526754.3:c.1627_1629del	XP_011525056.1:p.Ile543del
NM_001289790.3:c.1426_1428del	NP_001276719.1:p.Ile476del
NM_001329911.2:c.1483_1485del	NP_001316840.1:p.Ile495del