Canonical Allele Identifier: CA2655443857

Gene: SERPIND1 PI4KA

Linked Data

• gnomAD v4: 22-20779752-CTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.20779754_20779755del , CM000684.2:g.20779754_20779755del	GRCh38
NC_000022.10:g.21134042_21134043del , CM000684.1:g.21134042_21134043del	GRCh37
NC_000022.9:g.19464042_19464043del	NCBI36
NG_012076.1:g.10660_10661del
NG_033052.1:g.84059_84060del
NG_012076.2:g.10660_10661del
NG_033052.2:g.84059_84060del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215727.10:c.442_443del (SERPIND1) MANE Select	ENSP00000215727.5:p.Phe148ArgfsTer2
ENST00000255882.11:c.2328+13439_2328+13440del (PI4KA) MANE Select	ENSP00000255882.6:n.2328+13439_2328+13440del
ENST00000215727.9:c.442_443del (SERPIND1)	ENSP00000215727.5:p.Phe148ArgfsTer2
ENST00000255882.10:c.2328+13439_2328+13440del (PI4KA)	ENSP00000255882.6:n.2328+13439_2328+13440del
ENST00000406799.1:c.442_443del (SERPIND1)	ENSP00000384050.1:p.Phe148ArgfsTer2
ENST00000466162.5:n.91+13439_91+13440del (PI4KA)
ENST00000484220.1:n.64+13439_64+13440del (PI4KA)
NM_000185.3:c.442_443del (SERPIND1)	NP_000176.2:p.Phe148ArgfsTer2
NM_058004.3:c.2328+13439_2328+13440del (PI4KA)	NP_477352.3:n.2328+13439_2328+13440del
XM_005261634.1:c.2412+13439_2412+13440del (PI4KA)	XP_005261691.1:n.2412+13439_2412+13440del
XM_005261635.1:c.2412+13439_2412+13440del (PI4KA)	XP_005261692.1:n.2412+13439_2412+13440del
XM_011530226.1:c.2412+13439_2412+13440del (PI4KA)	XP_011528528.1:n.2412+13439_2412+13440del
XM_011530227.1:c.2412+13439_2412+13440del (PI4KA)	XP_011528529.1:n.2412+13439_2412+13440del
XM_011530228.1:c.2412+13439_2412+13440del (PI4KA)	XP_011528530.1:n.2412+13439_2412+13440del
XR_937868.1:n.2415+13439_2415+13440del (PI4KA)
NM_001362862.1:c.2328+13439_2328+13440del (PI4KA)	NP_001349791.1:n.2328+13439_2328+13440del
NM_001362863.1:c.2262+13439_2262+13440del (PI4KA)	NP_001349792.1:n.2262+13439_2262+13440del
XM_011530228.2:c.2412+13439_2412+13440del (PI4KA)	XP_011528530.1:n.2412+13439_2412+13440del
XM_017028830.1:c.429+13439_429+13440del (PI4KA)	XP_016884319.1:n.429+13439_429+13440del
XR_001755251.1:n.2415+13439_2415+13440del (PI4KA)
NM_000185.4:c.442_443del (SERPIND1) MANE Select	NP_000176.2:p.Phe148ArgfsTer2
NM_058004.4:c.2328+13439_2328+13440del (PI4KA) MANE Select	NP_477352.3:n.2328+13439_2328+13440del
NM_001362862.2:c.2328+13439_2328+13440del (PI4KA)	NP_001349791.1:n.2328+13439_2328+13440del
NM_001362863.2:c.2262+13439_2262+13440del (PI4KA)	NP_001349792.1:n.2262+13439_2262+13440del