Canonical Allele Identifier: CA2643694040

Gene: PADI4

Linked Data

• gnomAD v4: 1-17346050-C-CGACGTGCCAGGAGCCTCTGTTCAGGCCACAGGTGACCCCTGAGCCACCTGTGTGTCCCTCCCAATCCT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17346050_17346051insGACGTGCCAGGAGCCTCTGTTCAGGCCACAGGTGACCCCTGAGCCACCTGTGTGTCCCTCCCAATCCT , CM000663.2:g.17346050_17346051insGACGTGCCAGGAGCCTCTGTTCAGGCCACAGGTGACCCCTGAGCCACCTGTGTGTCCCTCCCAATCCT	GRCh38
NC_000001.10:g.17672545_17672546insGACGTGCCAGGAGCCTCTGTTCAGGCCACAGGTGACCCCTGAGCCACCTGTGTGTCCCTCCCAATCCT , CM000663.1:g.17672545_17672546insGACGTGCCAGGAGCCTCTGTTCAGGCCACAGGTGACCCCTGAGCCACCTGTGTGTCCCTCCCAATCCT	GRCh37
NC_000001.9:g.17545132_17545133insGACGTGCCAGGAGCCTCTGTTCAGGCCACAGGTGACCCCTGAGCCACCTGTGTGTCCCTCCCAATCCT	NCBI36
NG_023261.2:g.42861_42862insGACGTGCCAGGAGCCTCTGTTCAGGCCACAGGTGACCCCTGAGCCACCTGTGTGTCCCTCCCAATCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375448.4:c.958_959insGACGTGCCAGGAGCCTCTGTTCAGGCCACAGGTGACCCCTGAGCCACCTGTGTGTCCCTCCCAATCCT MANE Select	ENSP00000364597.4:p.Leu320ArgfsTer12
ENST00000468945.1:n.17_18insGACGTGCCAGGAGCCTCTGTTCAGGCCACAGGTGACCCCTGAGCCACCTGTGTGTCCCTCCCAATCCT
NM_012387.2:c.958_959insGACGTGCCAGGAGCCTCTGTTCAGGCCACAGGTGACCCCTGAGCCACCTGTGTGTCCCTCCCAATCCT	NP_036519.2:p.Leu320ArgfsTer12
XM_011541150.1:c.772_773insGACGTGCCAGGAGCCTCTGTTCAGGCCACAGGTGACCCCTGAGCCACCTGTGTGTCCCTCCCAATCCT	XP_011539452.1:p.Leu258ArgfsTer12
XM_011541151.1:c.958_959insGACGTGCCAGGAGCCTCTGTTCAGGCCACAGGTGACCCCTGAGCCACCTGTGTGTCCCTCCCAATCCT	XP_011539453.1:p.Leu320ArgfsTer12
XM_011541152.1:c.421_422insGACGTGCCAGGAGCCTCTGTTCAGGCCACAGGTGACCCCTGAGCCACCTGTGTGTCCCTCCCAATCCT	XP_011539454.1:p.Leu141ArgfsTer12
XM_011541153.1:c.958_959insGACGTGCCAGGAGCCTCTGTTCAGGCCACAGGTGACCCCTGAGCCACCTGTGTGTCCCTCCCAATCCT	XP_011539455.1:p.Leu320ArgfsTer12
XM_011541154.1:c.958_959insGACGTGCCAGGAGCCTCTGTTCAGGCCACAGGTGACCCCTGAGCCACCTGTGTGTCCCTCCCAATCCT	XP_011539456.1:p.Leu320ArgfsTer12
XM_011541155.1:c.958_959insGACGTGCCAGGAGCCTCTGTTCAGGCCACAGGTGACCCCTGAGCCACCTGTGTGTCCCTCCCAATCCT	XP_011539457.1:p.Leu320ArgfsTer12
XM_011541156.1:c.958_959insGACGTGCCAGGAGCCTCTGTTCAGGCCACAGGTGACCCCTGAGCCACCTGTGTGTCCCTCCCAATCCT	XP_011539458.1:p.Leu320ArgfsTer12
XM_011541157.1:c.67_68insGACGTGCCAGGAGCCTCTGTTCAGGCCACAGGTGACCCCTGAGCCACCTGTGTGTCCCTCCCAATCCT	XP_011539459.1:p.Leu23ArgfsTer12
XM_011541154.2:c.958_959insGACGTGCCAGGAGCCTCTGTTCAGGCCACAGGTGACCCCTGAGCCACCTGTGTGTCCCTCCCAATCCT	XP_011539456.1:p.Leu320ArgfsTer12
NM_012387.3:c.958_959insGACGTGCCAGGAGCCTCTGTTCAGGCCACAGGTGACCCCTGAGCCACCTGTGTGTCCCTCCCAATCCT MANE Select	NP_036519.2:p.Leu320ArgfsTer12