Canonical Allele Identifier: CA999105259

Gene: PADI4

Linked Data

• gnomAD v3: 1-17347941-G-GTTTTTTA
• gnomAD v4: 1-17347941-G-GTTTTTTA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17347941_17347942insTTTTTTA , CM000663.2:g.17347941_17347942insTTTTTTA	GRCh38
NC_000001.10:g.17674436_17674437insTTTTTTA , CM000663.1:g.17674436_17674437insTTTTTTA	GRCh37
NC_000001.9:g.17547023_17547024insTTTTTTA	NCBI36
NG_023261.2:g.44752_44753insTTTTTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375448.4:c.1048_1049insTTTTTTA MANE Select	ENSP00000364597.4:p.Asp350ValfsTer3
ENST00000468945.1:n.107_108insTTTTTTA
ENST00000487048.5:n.15_16insTTTTTTA
NM_012387.2:c.1048_1049insTTTTTTA	NP_036519.2:p.Asp350ValfsTer3
XM_011541150.1:c.862_863insTTTTTTA	XP_011539452.1:p.Asp288ValfsTer3
XM_011541151.1:c.1048_1049insTTTTTTA	XP_011539453.1:p.Asp350ValfsTer3
XM_011541152.1:c.511_512insTTTTTTA	XP_011539454.1:p.Asp171ValfsTer3
XM_011541153.1:c.1048_1049insTTTTTTA	XP_011539455.1:p.Asp350ValfsTer3
XM_011541154.1:c.1048_1049insTTTTTTA	XP_011539456.1:p.Asp350ValfsTer3
XM_011541155.1:c.1048_1049insTTTTTTA	XP_011539457.1:p.Asp350ValfsTer3
XM_011541156.1:c.1048_1049insTTTTTTA	XP_011539458.1:p.Asp350ValfsTer3
XM_011541157.1:c.157_158insTTTTTTA	XP_011539459.1:p.Asp53ValfsTer3
XM_011541154.2:c.1048_1049insTTTTTTA	XP_011539456.1:p.Asp350ValfsTer3
NM_012387.3:c.1048_1049insTTTTTTA MANE Select	NP_036519.2:p.Asp350ValfsTer3