Canonical Allele Identifier: CA2655444096

Gene: SERPIND1 PI4KA

Linked Data

• gnomAD v4: 22-20780199-AAGGTAAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.20780203_20780209del , CM000684.2:g.20780203_20780209del	GRCh38
NC_000022.10:g.21134491_21134497del , CM000684.1:g.21134491_21134497del	GRCh37
NC_000022.9:g.19464491_19464497del	NCBI36
NG_012076.1:g.11109_11115del
NG_033052.1:g.83607_83613del
NG_012076.2:g.11109_11115del
NG_033052.2:g.83607_83613del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215727.10:c.889+2_889+8del (SERPIND1)
ENST00000255882.11:c.2328+12987_2328+12993del (PI4KA) MANE Select	ENSP00000255882.6:n.2328+12987_2328+12993del
ENST00000215727.9:c.889+2_889+8del (SERPIND1)
ENST00000255882.10:c.2328+12987_2328+12993del (PI4KA)	ENSP00000255882.6:n.2328+12987_2328+12993del
ENST00000406799.1:c.889+2_889+8del (SERPIND1)
ENST00000466162.5:n.91+12987_91+12993del (PI4KA)
ENST00000484220.1:n.64+12987_64+12993del (PI4KA)
NM_000185.3:c.889+2_889+8del (SERPIND1)
NM_058004.3:c.2328+12987_2328+12993del (PI4KA)	NP_477352.3:n.2328+12987_2328+12993del
XM_005261634.1:c.2412+12987_2412+12993del (PI4KA)	XP_005261691.1:n.2412+12987_2412+12993del
XM_005261635.1:c.2412+12987_2412+12993del (PI4KA)	XP_005261692.1:n.2412+12987_2412+12993del
XM_011530226.1:c.2412+12987_2412+12993del (PI4KA)	XP_011528528.1:n.2412+12987_2412+12993del
XM_011530227.1:c.2412+12987_2412+12993del (PI4KA)	XP_011528529.1:n.2412+12987_2412+12993del
XM_011530228.1:c.2412+12987_2412+12993del (PI4KA)	XP_011528530.1:n.2412+12987_2412+12993del
XR_937868.1:n.2415+12987_2415+12993del (PI4KA)
NM_001362862.1:c.2328+12987_2328+12993del (PI4KA)	NP_001349791.1:n.2328+12987_2328+12993del
NM_001362863.1:c.2262+12987_2262+12993del (PI4KA)	NP_001349792.1:n.2262+12987_2262+12993del
XM_011530228.2:c.2412+12987_2412+12993del (PI4KA)	XP_011528530.1:n.2412+12987_2412+12993del
XM_017028830.1:c.429+12987_429+12993del (PI4KA)	XP_016884319.1:n.429+12987_429+12993del
XR_001755251.1:n.2415+12987_2415+12993del (PI4KA)
NM_000185.4:c.889+2_889+8del (SERPIND1)
NM_058004.4:c.2328+12987_2328+12993del (PI4KA) MANE Select	NP_477352.3:n.2328+12987_2328+12993del
NM_001362862.2:c.2328+12987_2328+12993del (PI4KA)	NP_001349791.1:n.2328+12987_2328+12993del
NM_001362863.2:c.2262+12987_2262+12993del (PI4KA)	NP_001349792.1:n.2262+12987_2262+12993del