Canonical Allele Identifier: CA2574238239
Gene: PADI6 HGNC NCBI

Linked Data

gnomAD v4: 1-17392183-ATCTG-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17392187_17392190del , CM000663.2:g.17392187_17392190del GRCh38
NG_032943.1:g.24942_24945del
NG_032943.2:g.24942_24945del

Transcript Alleles

HGVS Amino-acid Change
ENST00000619609.1:c.1036_1039del MANE Select ENSP00000483125.1:p.Val346MetfsTer29
NM_207421.4:c.1036_1039del MANE Select NP_997304.3:p.Val346MetfsTer29
Search 100 bp 5'
Search 100 bp 3'