Canonical Allele Identifier: CA7158884

Gene: PAX9

Linked Data

• dbSNP Id: rs768392168
• ExAC: 14:37132066 G / GTGCGCGTCCCTGCGCGCTGTGTGTTCATTT
• gnomAD v2: 14-37132066-G-GTGCGCGTCCCTGCGCGCTGTGTGTTCATTT
• gnomAD v4: 14-36662861-G-GTGCGCGTCCCTGCGCGCTGTGTGTTCATTT
• MyVariant Identifiers: chr14:g.37132066_37132067insTGCGCGTCCCTGCGCGCTGTGTGTTCATTT (hg19) ; chr14:g.36662861_36662862insTGCGCGTCCCTGCGCGCTGTGTGTTCATTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.36662865_36662894dup , CM000676.2:g.36662865_36662894dup	GRCh38
NC_000014.8:g.37132070_37132099dup , CM000676.1:g.37132070_37132099dup	GRCh37
NC_000014.7:g.36201821_36201850dup	NCBI36
NG_013357.1:g.10298_10327dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361487.7:c.5-32_5-3dup MANE Select	ENSP00000355245.6:n.5-32_5-3dup
ENST00000555639.2:c.5-32_5-3dup	ENSP00000501203.1:n.5-32_5-3dup
ENST00000361487.6:c.5-32_5-3dup	ENSP00000355245.6:n.5-32_5-3dup
ENST00000402703.6:c.5-32_5-3dup	ENSP00000384817.2:n.5-32_5-3dup
ENST00000554201.1:c.-589_-560dup	ENSP00000450434.1:n.-589_-560dup
ENST00000555639.1:n.307-32_307-3dup
NM_006194.3:c.5-32_5-3dup	NP_006185.1:n.5-32_5-3dup
NM_001372076.1:c.5-32_5-3dup MANE Select	NP_001359005.1:n.5-32_5-3dup
NM_006194.4:c.5-32_5-3dup	NP_006185.1:n.5-32_5-3dup