Canonical Allele Identifier: CA2643694389

Gene: PADI4

Linked Data

• gnomAD v4: 1-17348036-C-CACTCGTTTGATGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17348037_17348038insCTCGTTTGATGGGA , CM000663.2:g.17348037_17348038insCTCGTTTGATGGGA	GRCh38
NC_000001.10:g.17674532_17674533insCTCGTTTGATGGGA , CM000663.1:g.17674532_17674533insCTCGTTTGATGGGA	GRCh37
NC_000001.9:g.17547119_17547120insCTCGTTTGATGGGA	NCBI36
NG_023261.2:g.44848_44849insCTCGTTTGATGGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375448.4:c.1144_1145insCTCGTTTGATGGGA MANE Select	ENSP00000364597.4:p.Lys382ThrfsTer8
ENST00000468945.1:n.203_204insCTCGTTTGATGGGA
ENST00000487048.5:n.111_112insCTCGTTTGATGGGA
NM_012387.2:c.1144_1145insCTCGTTTGATGGGA	NP_036519.2:p.Lys382ThrfsTer8
XM_011541150.1:c.958_959insCTCGTTTGATGGGA	XP_011539452.1:p.Lys320ThrfsTer8
XM_011541151.1:c.1144_1145insCTCGTTTGATGGGA	XP_011539453.1:p.Lys382ThrfsTer8
XM_011541152.1:c.607_608insCTCGTTTGATGGGA	XP_011539454.1:p.Lys203ThrfsTer8
XM_011541153.1:c.1144_1145insCTCGTTTGATGGGA	XP_011539455.1:p.Lys382ThrfsTer8
XM_011541154.1:c.1144_1145insCTCGTTTGATGGGA	XP_011539456.1:p.Lys382ThrfsTer8
XM_011541155.1:c.1144_1145insCTCGTTTGATGGGA	XP_011539457.1:p.Lys382ThrfsTer8
XM_011541156.1:c.1144_1145insCTCGTTTGATGGGA	XP_011539458.1:p.Lys382ThrfsTer8
XM_011541157.1:c.253_254insCTCGTTTGATGGGA	XP_011539459.1:p.Lys85ThrfsTer8
XM_011541154.2:c.1144_1145insCTCGTTTGATGGGA	XP_011539456.1:p.Lys382ThrfsTer8
NM_012387.3:c.1144_1145insCTCGTTTGATGGGA MANE Select	NP_036519.2:p.Lys382ThrfsTer8