Canonical Allele Identifier: CA2655442660

Gene: SERPIND1 PI4KA

Linked Data

• gnomAD v4: 22-20779537-GGACGACGACTATCTGGACCTGGAGAAGATATTCAGTGAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.20779549_20779587del , CM000684.2:g.20779549_20779587del	GRCh38
NC_000022.10:g.21133837_21133875del , CM000684.1:g.21133837_21133875del	GRCh37
NC_000022.9:g.19463837_19463875del	NCBI36
NG_012076.1:g.10455_10493del
NG_033052.1:g.84237_84275del
NG_012076.2:g.10455_10493del
NG_033052.2:g.84237_84275del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215727.10:c.237_275del (SERPIND1) MANE Select	ENSP00000215727.5:p.Leu80_Tyr92del
ENST00000255882.11:c.2328+13617_2328+13655del (PI4KA) MANE Select	ENSP00000255882.6:n.2328+13617_2328+13655del
ENST00000215727.9:c.237_275del (SERPIND1)	ENSP00000215727.5:p.Leu80_Tyr92del
ENST00000255882.10:c.2328+13617_2328+13655del (PI4KA)	ENSP00000255882.6:n.2328+13617_2328+13655del
ENST00000406799.1:c.237_275del (SERPIND1)	ENSP00000384050.1:p.Leu80_Tyr92del
ENST00000466162.5:n.91+13617_91+13655del (PI4KA)
ENST00000484220.1:n.64+13617_64+13655del (PI4KA)
NM_000185.3:c.237_275del (SERPIND1)	NP_000176.2:p.Leu80_Tyr92del
NM_058004.3:c.2328+13617_2328+13655del (PI4KA)	NP_477352.3:n.2328+13617_2328+13655del
XM_005261634.1:c.2412+13617_2412+13655del (PI4KA)	XP_005261691.1:n.2412+13617_2412+13655del
XM_005261635.1:c.2412+13617_2412+13655del (PI4KA)	XP_005261692.1:n.2412+13617_2412+13655del
XM_011530226.1:c.2412+13617_2412+13655del (PI4KA)	XP_011528528.1:n.2412+13617_2412+13655del
XM_011530227.1:c.2412+13617_2412+13655del (PI4KA)	XP_011528529.1:n.2412+13617_2412+13655del
XM_011530228.1:c.2412+13617_2412+13655del (PI4KA)	XP_011528530.1:n.2412+13617_2412+13655del
XR_937868.1:n.2415+13617_2415+13655del (PI4KA)
NM_001362862.1:c.2328+13617_2328+13655del (PI4KA)	NP_001349791.1:n.2328+13617_2328+13655del
NM_001362863.1:c.2262+13617_2262+13655del (PI4KA)	NP_001349792.1:n.2262+13617_2262+13655del
XM_011530228.2:c.2412+13617_2412+13655del (PI4KA)	XP_011528530.1:n.2412+13617_2412+13655del
XM_017028830.1:c.429+13617_429+13655del (PI4KA)	XP_016884319.1:n.429+13617_429+13655del
XR_001755251.1:n.2415+13617_2415+13655del (PI4KA)
NM_000185.4:c.237_275del (SERPIND1) MANE Select	NP_000176.2:p.Leu80_Tyr92del
NM_058004.4:c.2328+13617_2328+13655del (PI4KA) MANE Select	NP_477352.3:n.2328+13617_2328+13655del
NM_001362862.2:c.2328+13617_2328+13655del (PI4KA)	NP_001349791.1:n.2328+13617_2328+13655del
NM_001362863.2:c.2262+13617_2262+13655del (PI4KA)	NP_001349792.1:n.2262+13617_2262+13655del