Canonical Allele Identifier: CA10628175
Gene: PAX4 HGNC NCBI

Linked Data

ClinVar Variation Id: 358781
ClinVar RCV Id: RCV000376450
dbSNP Id: rs886061966
gnomAD v2: 7-127250620-TGTGTGC-T
gnomAD v3: 7-127610566-TGTGTGC-T
gnomAD v4: 7-127610566-TGTGTGC-T
MyVariant Identifiers: chr7:g.127250621_127250626del (hg19) chr7:g.127610567_127610572del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.127610568_127610573del , CM000669.2:g.127610568_127610573del GRCh38
NC_000007.13:g.127250622_127250627del , CM000669.1:g.127250622_127250627del GRCh37
NC_000007.12:g.127037858_127037863del NCBI36
NG_012848.1:g.10155_10160del

Transcript Alleles

HGVS Amino-acid Change
ENST00000639438.3:c.*492_*497del MANE Select ENSP00000491782.1:n.*492_*497del
ENST00000341640.6:c.*492_*497del ENSP00000339906.2:n.*492_*497del
NM_006193.2:c.*492_*497del NP_006184.2:n.*492_*497del
NM_001366110.1:c.*492_*497del MANE Select NP_001353039.1:n.*492_*497del
NM_001366111.1:c.*280_*285del NP_001353040.1:n.*280_*285del
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