Canonical Allele Identifier: CA640777

Gene: PADI4

Linked Data

• dbSNP Id: rs774420555
• ExAC: 1:17674479 TG / T
• gnomAD v2: 1-17674479-TG-T
• gnomAD v3: 1-17347984-TG-T
• gnomAD v4: 1-17347984-TG-T
• MyVariant Identifiers: chr1:g.17674480del (hg19) ; chr1:g.17347985del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17347985del , CM000663.2:g.17347985del	GRCh38
NC_000001.10:g.17674480del , CM000663.1:g.17674480del	GRCh37
NC_000001.9:g.17547067del	NCBI36
NG_023261.2:g.44796del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375448.4:c.1092del MANE Select	ENSP00000364597.4:p.Val366TrpfsTer11
ENST00000468945.1:n.151del
ENST00000487048.5:n.59del
NM_012387.2:c.1092del	NP_036519.2:p.Val366TrpfsTer11
XM_011541150.1:c.906del	XP_011539452.1:p.Val304TrpfsTer11
XM_011541151.1:c.1092del	XP_011539453.1:p.Val366TrpfsTer11
XM_011541152.1:c.555del	XP_011539454.1:p.Val187TrpfsTer11
XM_011541153.1:c.1092del	XP_011539455.1:p.Val366TrpfsTer11
XM_011541154.1:c.1092del	XP_011539456.1:p.Val366TrpfsTer11
XM_011541155.1:c.1092del	XP_011539457.1:p.Val366TrpfsTer11
XM_011541156.1:c.1092del	XP_011539458.1:p.Val366TrpfsTer11
XM_011541157.1:c.201del	XP_011539459.1:p.Val69TrpfsTer11
XM_011541154.2:c.1092del	XP_011539456.1:p.Val366TrpfsTer11
NM_012387.3:c.1092del MANE Select	NP_036519.2:p.Val366TrpfsTer11