Canonical Allele Identifier: CA640782

Gene: PADI4

Linked Data

• dbSNP Id: rs748323346
• ExAC: 1:17674502 AG / A
• gnomAD v2: 1-17674502-AG-A
• gnomAD v3: 1-17348007-AG-A
• gnomAD v4: 1-17348007-AG-A
• MyVariant Identifiers: chr1:g.17674503del (hg19) ; chr1:g.17348009del (hg38) ; chr1:g.17348008del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17348009del , CM000663.2:g.17348009del	GRCh38
NC_000001.10:g.17674504del , CM000663.1:g.17674504del	GRCh37
NC_000001.9:g.17547091del	NCBI36
NG_023261.2:g.44820del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375448.4:c.1116del MANE Select	ENSP00000364597.4:p.Asn373ThrfsTer4
ENST00000468945.1:n.175del
ENST00000487048.5:n.83del
NM_012387.2:c.1116del	NP_036519.2:p.Asn373ThrfsTer4
XM_011541150.1:c.930del	XP_011539452.1:p.Asn311ThrfsTer4
XM_011541151.1:c.1116del	XP_011539453.1:p.Asn373ThrfsTer4
XM_011541152.1:c.579del	XP_011539454.1:p.Asn194ThrfsTer4
XM_011541153.1:c.1116del	XP_011539455.1:p.Asn373ThrfsTer4
XM_011541154.1:c.1116del	XP_011539456.1:p.Asn373ThrfsTer4
XM_011541155.1:c.1116del	XP_011539457.1:p.Asn373ThrfsTer4
XM_011541156.1:c.1116del	XP_011539458.1:p.Asn373ThrfsTer4
XM_011541157.1:c.225del	XP_011539459.1:p.Asn76ThrfsTer4
XM_011541154.2:c.1116del	XP_011539456.1:p.Asn373ThrfsTer4
NM_012387.3:c.1116del MANE Select	NP_036519.2:p.Asn373ThrfsTer4