Canonical Allele Identifier: CA2593614858
Gene: PADI6 HGNC NCBI

Linked Data

gnomAD v3: 1-17395568-G-GA
gnomAD v4: 1-17395568-G-GA
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17395568_17395569insA , CM000663.2:g.17395568_17395569insA GRCh38
NC_000001.10:g.17722064_17722065insA , CM000663.1:g.17722064_17722065insA GRCh37
NC_000001.9:g.17594651_17594652insA NCBI36
NG_032943.1:g.28323_28324insA
NG_032943.2:g.28323_28324insA

Transcript Alleles

HGVS Amino-acid change
ENST00000619609.1:c.1523_1524insA MANE Select ENSP00000483125.1:p.Ser508ArgfsTer5
NM_207421.4:c.1523_1524insA MANE Select NP_997304.3:p.Ser508ArgfsTer5
Search 100 bp 5'
Search 100 bp 3'