Canonical Allele Identifier: CA2739290361
Gene: SERPIND1 HGNC NCBI
PI4KA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.20780139_20780140insG , CM000684.2:g.20780139_20780140insG GRCh38
NC_000022.10:g.21134427_21134428insG , CM000684.1:g.21134427_21134428insG GRCh37
NC_000022.9:g.19464427_19464428insG NCBI36
NG_012076.1:g.11045_11046insG
NG_033052.1:g.83673_83674insC
NG_012076.2:g.11045_11046insG
NG_033052.2:g.83673_83674insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000215727.10:c.827_828insG (SERPIND1) MANE Select ENSP00000215727.5:p.Asp276GlufsTer27
ENST00000255882.11:c.2328+13053_2328+13054insC (PI4KA) MANE Select ENSP00000255882.6:n.2328+13053_2328+13054insC
ENST00000215727.9:c.827_828insG (SERPIND1) ENSP00000215727.5:p.Asp276GlufsTer27
ENST00000255882.10:c.2328+13053_2328+13054insC (PI4KA) ENSP00000255882.6:n.2328+13053_2328+13054insC
ENST00000406799.1:c.827_828insG (SERPIND1) ENSP00000384050.1:p.Asp276GlufsTer27
ENST00000466162.5:n.91+13053_91+13054insC (PI4KA)
ENST00000484220.1:n.64+13053_64+13054insC (PI4KA)
NM_000185.3:c.827_828insG (SERPIND1) NP_000176.2:p.Asp276GlufsTer27
NM_058004.3:c.2328+13053_2328+13054insC (PI4KA) NP_477352.3:n.2328+13053_2328+13054insC
XM_005261634.1:c.2412+13053_2412+13054insC (PI4KA) XP_005261691.1:n.2412+13053_2412+13054insC
XM_005261635.1:c.2412+13053_2412+13054insC (PI4KA) XP_005261692.1:n.2412+13053_2412+13054insC
XM_011530226.1:c.2412+13053_2412+13054insC (PI4KA) XP_011528528.1:n.2412+13053_2412+13054insC
XM_011530227.1:c.2412+13053_2412+13054insC (PI4KA) XP_011528529.1:n.2412+13053_2412+13054insC
XM_011530228.1:c.2412+13053_2412+13054insC (PI4KA) XP_011528530.1:n.2412+13053_2412+13054insC
XR_937868.1:n.2415+13053_2415+13054insC (PI4KA)
NM_001362862.1:c.2328+13053_2328+13054insC (PI4KA) NP_001349791.1:n.2328+13053_2328+13054insC
NM_001362863.1:c.2262+13053_2262+13054insC (PI4KA) NP_001349792.1:n.2262+13053_2262+13054insC
XM_011530228.2:c.2412+13053_2412+13054insC (PI4KA) XP_011528530.1:n.2412+13053_2412+13054insC
XM_017028830.1:c.429+13053_429+13054insC (PI4KA) XP_016884319.1:n.429+13053_429+13054insC
XR_001755251.1:n.2415+13053_2415+13054insC (PI4KA)
NM_000185.4:c.827_828insG (SERPIND1) MANE Select NP_000176.2:p.Asp276GlufsTer27
NM_058004.4:c.2328+13053_2328+13054insC (PI4KA) MANE Select NP_477352.3:n.2328+13053_2328+13054insC
NM_001362862.2:c.2328+13053_2328+13054insC (PI4KA) NP_001349791.1:n.2328+13053_2328+13054insC
NM_001362863.2:c.2262+13053_2262+13054insC (PI4KA) NP_001349792.1:n.2262+13053_2262+13054insC