Canonical Allele Identifier: CA640749

Gene: PADI4

Linked Data

• dbSNP Id: rs749615896
• ExAC: 1:17672649 GGGCA / G
• gnomAD v2: 1-17672649-GGGCA-G
• gnomAD v4: 1-17346154-GGGCA-G
• MyVariant Identifiers: chr1:g.17672650_17672653del (hg19) ; chr1:g.17346155_17346158del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17346161_17346164del , CM000663.2:g.17346161_17346164del	GRCh38
NC_000001.10:g.17672656_17672659del , CM000663.1:g.17672656_17672659del	GRCh37
NC_000001.9:g.17545243_17545246del	NCBI36
NG_023261.2:g.42972_42975del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375448.4:c.1047+22_1047+25del MANE Select	ENSP00000364597.4:n.1047+22_1047+25del
ENST00000468945.1:n.106+22_106+25del
NM_012387.2:c.1047+22_1047+25del	NP_036519.2:n.1047+22_1047+25del
XM_011541150.1:c.861+22_861+25del	XP_011539452.1:n.861+22_861+25del
XM_011541151.1:c.1047+22_1047+25del	XP_011539453.1:n.1047+22_1047+25del
XM_011541152.1:c.510+22_510+25del	XP_011539454.1:n.510+22_510+25del
XM_011541153.1:c.1047+22_1047+25del	XP_011539455.1:n.1047+22_1047+25del
XM_011541154.1:c.1047+22_1047+25del	XP_011539456.1:n.1047+22_1047+25del
XM_011541155.1:c.1047+22_1047+25del	XP_011539457.1:n.1047+22_1047+25del
XM_011541156.1:c.1047+22_1047+25del	XP_011539458.1:n.1047+22_1047+25del
XM_011541157.1:c.156+22_156+25del	XP_011539459.1:n.156+22_156+25del
XM_011541154.2:c.1047+22_1047+25del	XP_011539456.1:n.1047+22_1047+25del
NM_012387.3:c.1047+22_1047+25del MANE Select	NP_036519.2:n.1047+22_1047+25del