Canonical Allele Identifier: CA587568914

Gene: PIGO

Linked Data

• ClinVar Variation Id: 1070437
• ClinVar RCV Id: RCV001382574
• dbSNP Id: rs1209271799
• gnomAD v2: 9-35092434-GGAGTA-G
• gnomAD v3: 9-35092437-GGAGTA-G
• gnomAD v4: 9-35092437-GGAGTA-G
• MyVariant Identifiers: chr9:g.35092435_35092439del (hg19) ; chr9:g.35092438_35092442del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.35092441_35092445del , CM000671.2:g.35092441_35092445del	GRCh38
NC_000009.11:g.35092438_35092442del , CM000671.1:g.35092438_35092442del	GRCh37
NC_000009.10:g.35082438_35082442del	NCBI36
NG_031990.1:g.9160_9164del

Transcript Alleles

HGVS	Amino-acid change
ENST00000361778.7:c.1344+101_1344+105del	ENSP00000354678.2:n.1344+101_1344+105del
ENST00000700254.1:c.1344+101_1344+105del	ENSP00000514892.1:n.1344+101_1344+105del
ENST00000700255.1:c.*625_*629del	ENSP00000514893.1:n.*625_*629del
ENST00000700256.1:n.1477_1481del
ENST00000700257.1:c.1445_1449del	ENSP00000514894.1:p.Leu482ProfsTer22
ENST00000700259.1:c.1344+101_1344+105del	ENSP00000514895.1:n.1344+101_1344+105del
ENST00000700260.1:c.1164+101_1164+105del	ENSP00000514896.1:n.1164+101_1164+105del
ENST00000700261.1:c.1360+85_1360+89del	ENSP00000514897.1:n.1360+85_1360+89del
ENST00000700262.1:c.1344+101_1344+105del	ENSP00000514898.1:n.1344+101_1344+105del
ENST00000700263.1:c.1321_1325del	ENSP00000514899.1:n.1321_1325del
ENST00000700264.1:c.1445_1449del	ENSP00000514900.1:p.Leu482ProfsTer22
ENST00000378617.4:c.1445_1449del MANE Select	ENSP00000367880.3:p.Leu482ProfsTer22
ENST00000298004.9:c.1344+101_1344+105del	ENSP00000298004.5:n.1344+101_1344+105del
ENST00000361778.6:c.1344+101_1344+105del	ENSP00000354678.2:n.1344+101_1344+105del
ENST00000378617.3:c.1445_1449del	ENSP00000367880.3:p.Leu482ProfsTer22
ENST00000465745.6:n.2446_2450del
ENST00000474436.1:n.2903_2907del
NM_001201484.1:c.1344+101_1344+105del	NP_001188413.1:n.1344+101_1344+105del
NM_032634.3:c.1445_1449del	NP_116023.2:p.Leu482ProfsTer22
NM_152850.3:c.1344+101_1344+105del	NP_690577.2:n.1344+101_1344+105del
XM_005251619.2:c.1445_1449del	XP_005251676.1:p.Leu482ProfsTer22
XM_011518056.1:c.1445_1449del	XP_011516358.1:p.Leu482ProfsTer22
XR_242515.1:n.1466_1470del
XM_005251619.3:c.1445_1449del	XP_005251676.1:p.Leu482ProfsTer22
XM_017015222.2:c.1445_1449del	XP_016870711.1:p.Leu482ProfsTer22
XM_017015223.1:c.1344+101_1344+105del	XP_016870712.1:n.1344+101_1344+105del
XM_017015224.1:c.1344+101_1344+105del	XP_016870713.1:n.1344+101_1344+105del
XR_001746390.1:n.1868_1872del
XR_001746391.2:n.1365+101_1365+105del
XR_242515.3:n.1466_1470del
NM_032634.4:c.1445_1449del MANE Select	NP_116023.2:p.Leu482ProfsTer22
NM_001201484.2:c.1344+101_1344+105del	NP_001188413.1:n.1344+101_1344+105del
NM_152850.4:c.1344+101_1344+105del	NP_690577.2:n.1344+101_1344+105del