Canonical Allele Identifier: CA521026941
Gene: PADI2 HGNC NCBI

Linked Data

dbSNP Id: rs1256953051
gnomAD v2: 1-17444358-AG-A
gnomAD v3: 1-17117863-AG-A
gnomAD v4: 1-17117863-AG-A
MyVariant Identifiers: chr1:g.17444359del (hg19) chr1:g.17117864del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17117867del , CM000663.2:g.17117867del GRCh38
NC_000001.10:g.17444362del , CM000663.1:g.17444362del GRCh37
NC_000001.9:g.17316949del NCBI36
NG_033958.1:g.6590del

Transcript Alleles

HGVS Amino-acid Change
ENST00000375486.9:c.92+1416del MANE Select ENSP00000364635.4:n.92+1416del
ENST00000375481.1:c.92+1416del ENSP00000364630.1:n.92+1416del
ENST00000375486.8:c.92+1416del ENSP00000364635.4:n.92+1416del
NM_007365.2:c.92+1416del NP_031391.2:n.92+1416del
XM_011540549.1:c.92+1416del XP_011538851.1:n.92+1416del
XR_947004.1:n.4443del
XR_001736944.1:n.174+1416del
NM_007365.3:c.92+1416del MANE Select NP_031391.2:n.92+1416del
Search 100 bp 5'
Search 100 bp 3'