Canonical Allele Identifier: CA5040186

Gene: PIGO

Linked Data

• ClinVar Variation Id: 420520
• ClinVar RCV Id: RCV001696890 ; RCV003925407
• dbSNP Id: rs540040672
• ExAC: 9:35089077 TCA / T
• gnomAD v2: 9-35089077-TCA-T
• gnomAD v3: 9-35089080-TCA-T
• gnomAD v4: 9-35089080-TCA-T
• MyVariant Identifiers: chr9:g.35089078_35089079del (hg19) ; chr9:g.35089082_35089083del (hg38) ; chr9:g.35089081_35089082del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.35089083_35089084del , CM000671.2:g.35089083_35089084del	GRCh38
NC_000009.11:g.35089080_35089081del , CM000671.1:g.35089080_35089081del	GRCh37
NC_000009.10:g.35079080_35079081del	NCBI36
NG_031990.1:g.12520_12521del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361778.7:c.*10_*11del	ENSP00000354678.2:n.*10_*11del
ENST00000700254.1:c.*10_*11del	ENSP00000514892.1:n.*10_*11del
ENST00000700255.1:c.*2460_*2461del	ENSP00000514893.1:n.*2460_*2461del
ENST00000700256.1:n.4112_4113del
ENST00000700257.1:c.*10_*11del	ENSP00000514894.1:n.*10_*11del
ENST00000700258.1:n.1271_1272del
ENST00000700259.1:c.*843_*844del	ENSP00000514895.1:n.*843_*844del
ENST00000700260.1:c.1849_1850del	ENSP00000514896.1:n.1849_1850del
ENST00000700261.1:c.*10_*11del	ENSP00000514897.1:n.*10_*11del
ENST00000700262.1:c.*211_*212del	ENSP00000514898.1:n.*211_*212del
ENST00000700263.1:c.3234_3235del	ENSP00000514899.1:n.3234_3235del
ENST00000700264.1:c.*211_*212del	ENSP00000514900.1:n.*211_*212del
ENST00000378617.4:c.*10_*11del MANE Select	ENSP00000367880.3:n.*10_*11del
ENST00000298004.9:c.*10_*11del	ENSP00000298004.5:n.*10_*11del
ENST00000361778.6:c.*10_*11del	ENSP00000354678.2:n.*10_*11del
ENST00000378617.3:c.*10_*11del	ENSP00000367880.3:n.*10_*11del
ENST00000465745.6:n.5058_5059del
ENST00000474436.1:n.6263_6264del
ENST00000491687.1:n.415_416del
NM_001201484.1:c.*10_*11del	NP_001188413.1:n.*10_*11del
NM_032634.3:c.*10_*11del	NP_116023.2:n.*10_*11del
NM_152850.3:c.*10_*11del	NP_690577.2:n.*10_*11del
XM_005251619.2:c.*10_*11del	XP_005251676.1:n.*10_*11del
XM_011518056.1:c.*10_*11del	XP_011516358.1:n.*10_*11del
XR_242515.1:n.3305_3306del
XM_005251619.3:c.*10_*11del	XP_005251676.1:n.*10_*11del
XM_017015222.2:c.*10_*11del	XP_016870711.1:n.*10_*11del
XM_017015223.1:c.*10_*11del	XP_016870712.1:n.*10_*11del
XM_017015224.1:c.*10_*11del	XP_016870713.1:n.*10_*11del
XR_001746390.1:n.3707_3708del
XR_001746391.2:n.2054_2055del
XR_242515.3:n.3305_3306del
NM_032634.4:c.*10_*11del MANE Select	NP_116023.2:n.*10_*11del
NM_001201484.2:c.*10_*11del	NP_001188413.1:n.*10_*11del
NM_152850.4:c.*10_*11del	NP_690577.2:n.*10_*11del