Canonical Allele Identifier: CA7158968
Gene: PAX9 HGNC NCBI

Linked Data

dbSNP Id: rs761306736
ExAC: 14:37132567 A / ACCACATCTACTCGTACCCCAG
gnomAD v2: 14-37132567-A-ACCACATCTACTCGTACCCCAG
gnomAD v3: 14-36663362-A-ACCACATCTACTCGTACCCCAG
gnomAD v4: 14-36663362-A-ACCACATCTACTCGTACCCCAG
MyVariant Identifiers: chr14:g.37132567_37132568insCCACATCTACTCGTACCCCAG (hg19) chr14:g.36663362_36663363insCCACATCTACTCGTACCCCAG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.36663365_36663385dup , CM000676.2:g.36663365_36663385dup GRCh38
NC_000014.8:g.37132570_37132590dup , CM000676.1:g.37132570_37132590dup GRCh37
NC_000014.7:g.36202321_36202341dup NCBI36
NG_013357.1:g.10798_10818dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000361487.7:c.473_493dup MANE Select ENSP00000355245.6:p.Ser164_Pro165insHisIleTyrSerTyrProSer
ENST00000361487.6:c.473_493dup ENSP00000355245.6:p.Ser164_Pro165insHisIleTyrSerTyrProSer
ENST00000402703.6:c.473_493dup ENSP00000384817.2:p.Ser164_Pro165insHisIleTyrSerTyrProSer
ENST00000554201.1:c.-89_-69dup ENSP00000450434.1:n.-89_-69dup
NM_006194.3:c.473_493dup NP_006185.1:p.Ser164_Pro165insHisIleTyrSerTyrProSer
NM_001372076.1:c.473_493dup MANE Select NP_001359005.1:p.Ser164_Pro165insHisIleTyrSerTyrProSer
NM_006194.4:c.473_493dup NP_006185.1:p.Ser164_Pro165insHisIleTyrSerTyrProSer
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