Canonical Allele Identifier: CA2624603377
Gene: PAX9 HGNC NCBI

Linked Data

gnomAD v4: 14-36663372-C-CTCG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.36663374_36663376dup , CM000676.2:g.36663374_36663376dup GRCh38
NC_000014.8:g.37132579_37132581dup , CM000676.1:g.37132579_37132581dup GRCh37
NC_000014.7:g.36202330_36202332dup NCBI36
NG_013357.1:g.10807_10809dup

Transcript Alleles

HGVS Amino-acid change
ENST00000361487.7:c.482_484dup MANE Select ENSP00000355245.6:p.Ser161_Tyr162insSer
ENST00000361487.6:c.482_484dup ENSP00000355245.6:p.Ser161_Tyr162insSer
ENST00000402703.6:c.482_484dup ENSP00000384817.2:p.Ser161_Tyr162insSer
ENST00000554201.1:c.-80_-78dup ENSP00000450434.1:n.-80_-78dup
NM_006194.3:c.482_484dup NP_006185.1:p.Ser161_Tyr162insSer
NM_001372076.1:c.482_484dup MANE Select NP_001359005.1:p.Ser161_Tyr162insSer
NM_006194.4:c.482_484dup NP_006185.1:p.Ser161_Tyr162insSer
Search 100 bp 5'
Search 100 bp 3'