Canonical Allele Identifier: CA322258463

Gene: SERPIND1 PI4KA

Linked Data

• dbSNP Id: rs973936444
• gnomAD v2: 22-21133825-GGAC-G
• gnomAD v3: 22-20779537-GGAC-G
• gnomAD v4: 22-20779537-GGAC-G
• MyVariant Identifiers: chr22:g.21133826_21133828del (hg19) ; chr22:g.20779538_20779540del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.20779544_20779546del , CM000684.2:g.20779544_20779546del	GRCh38
NC_000022.10:g.21133832_21133834del , CM000684.1:g.21133832_21133834del	GRCh37
NC_000022.9:g.19463832_19463834del	NCBI36
NG_012076.1:g.10450_10452del
NG_033052.1:g.84273_84275del
NG_012076.2:g.10450_10452del
NG_033052.2:g.84273_84275del

Transcript Alleles

HGVS	Amino-acid change
ENST00000215727.10:c.232_234del (SERPIND1) MANE Select	ENSP00000215727.5:p.Asp78del
ENST00000255882.11:c.2328+13653_2328+13655del (PI4KA) MANE Select	ENSP00000255882.6:n.2328+13653_2328+13655del
ENST00000215727.9:c.232_234del (SERPIND1)	ENSP00000215727.5:p.Asp78del
ENST00000255882.10:c.2328+13653_2328+13655del (PI4KA)	ENSP00000255882.6:n.2328+13653_2328+13655del
ENST00000406799.1:c.232_234del (SERPIND1)	ENSP00000384050.1:p.Asp78del
ENST00000466162.5:n.91+13653_91+13655del (PI4KA)
ENST00000484220.1:n.64+13653_64+13655del (PI4KA)
NM_000185.3:c.232_234del (SERPIND1)	NP_000176.2:p.Asp78del
NM_058004.3:c.2328+13653_2328+13655del (PI4KA)	NP_477352.3:n.2328+13653_2328+13655del
XM_005261634.1:c.2412+13653_2412+13655del (PI4KA)	XP_005261691.1:n.2412+13653_2412+13655del
XM_005261635.1:c.2412+13653_2412+13655del (PI4KA)	XP_005261692.1:n.2412+13653_2412+13655del
XM_011530226.1:c.2412+13653_2412+13655del (PI4KA)	XP_011528528.1:n.2412+13653_2412+13655del
XM_011530227.1:c.2412+13653_2412+13655del (PI4KA)	XP_011528529.1:n.2412+13653_2412+13655del
XM_011530228.1:c.2412+13653_2412+13655del (PI4KA)	XP_011528530.1:n.2412+13653_2412+13655del
XR_937868.1:n.2415+13653_2415+13655del (PI4KA)
NM_001362862.1:c.2328+13653_2328+13655del (PI4KA)	NP_001349791.1:n.2328+13653_2328+13655del
NM_001362863.1:c.2262+13653_2262+13655del (PI4KA)	NP_001349792.1:n.2262+13653_2262+13655del
XM_011530228.2:c.2412+13653_2412+13655del (PI4KA)	XP_011528530.1:n.2412+13653_2412+13655del
XM_017028830.1:c.429+13653_429+13655del (PI4KA)	XP_016884319.1:n.429+13653_429+13655del
XR_001755251.1:n.2415+13653_2415+13655del (PI4KA)
NM_000185.4:c.232_234del (SERPIND1) MANE Select	NP_000176.2:p.Asp78del
NM_058004.4:c.2328+13653_2328+13655del (PI4KA) MANE Select	NP_477352.3:n.2328+13653_2328+13655del
NM_001362862.2:c.2328+13653_2328+13655del (PI4KA)	NP_001349791.1:n.2328+13653_2328+13655del
NM_001362863.2:c.2262+13653_2262+13655del (PI4KA)	NP_001349792.1:n.2262+13653_2262+13655del