Canonical Allele Identifier: CA1931941225

Gene: PAX2

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100786915_100786919delinsGTGTT , CM000672.2:g.100786915_100786919delinsGTGTT	GRCh38
NC_000010.10:g.102546672_102546676delinsGTGTT , CM000672.1:g.102546672_102546676delinsGTGTT	GRCh37
NC_000010.9:g.102536662_102536666delinsGTGTT	NCBI36
NG_008680.1:g.46205_46209delinsGTGTT
NG_008680.2:g.56207_56211delinsGTGTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000707078.1:c.709+5550_709+5554delinsGTGTT	ENSP00000516729.1:n.709+5550_709+5554delinsGTGTT
ENST00000707079.1:c.617-28_617-24delinsGTGTT	ENSP00000516730.1:n.617-28_617-24delinsGTGTT
ENST00000355243.8:c.616+5550_616+5554delinsGTGTT MANE Select	ENSP00000347385.3:n.616+5550_616+5554delinsGTGTT
ENST00000427256.6:c.616+5550_616+5554delinsGTGTT	ENSP00000398652.2:n.616+5550_616+5554delinsGTGTT
ENST00000679374.1:c.598+5550_598+5554delinsGTGTT	ENSP00000506041.1:n.598+5550_598+5554delinsGTGTT
ENST00000355243.7:c.616+5550_616+5554delinsGTGTT	ENSP00000347385.2:n.616+5550_616+5554delinsGTGTT
ENST00000361791.7:c.613+5550_613+5554delinsGTGTT	ENSP00000355069.4:n.613+5550_613+5554delinsGTGTT
ENST00000370296.6:c.616+5550_616+5554delinsGTGTT	ENSP00000359319.3:n.616+5550_616+5554delinsGTGTT
ENST00000427256.5:c.617-28_617-24delinsGTGTT	ENSP00000398652.1:n.617-28_617-24delinsGTGTT
ENST00000428433.5:c.617-28_617-24delinsGTGTT	ENSP00000396259.1:n.617-28_617-24delinsGTGTT
ENST00000553492.5:n.337+5550_337+5554delinsGTGTT
ENST00000554172.2:c.604+5574_604+5578delinsGTGTT	ENSP00000452489.2:n.604+5574_604+5578delinsGTGTT
ENST00000554363.2:n.331+5550_331+5554delinsGTGTT
NM_000278.3:c.616+5550_616+5554delinsGTGTT	NP_000269.2:n.616+5550_616+5554delinsGTGTT
NM_001304569.1:c.709+5550_709+5554delinsGTGTT	NP_001291498.1:n.709+5550_709+5554delinsGTGTT
NM_003987.3:c.617-28_617-24delinsGTGTT	NP_003978.2:n.617-28_617-24delinsGTGTT
NM_003988.3:c.616+5550_616+5554delinsGTGTT	NP_003979.2:n.616+5550_616+5554delinsGTGTT
NM_003989.3:c.616+5550_616+5554delinsGTGTT	NP_003980.2:n.616+5550_616+5554delinsGTGTT
NM_003990.3:c.617-28_617-24delinsGTGTT	NP_003981.2:n.617-28_617-24delinsGTGTT
NM_000278.4:c.616+5550_616+5554delinsGTGTT	NP_000269.3:n.616+5550_616+5554delinsGTGTT
NM_003987.4:c.617-28_617-24delinsGTGTT	NP_003978.3:n.617-28_617-24delinsGTGTT
NM_003988.4:c.616+5550_616+5554delinsGTGTT	NP_003979.2:n.616+5550_616+5554delinsGTGTT
NM_003989.4:c.616+5550_616+5554delinsGTGTT	NP_003980.3:n.616+5550_616+5554delinsGTGTT
NM_003990.4:c.617-28_617-24delinsGTGTT	NP_003981.3:n.617-28_617-24delinsGTGTT
NM_000278.5:c.616+5550_616+5554delinsGTGTT MANE Select	NP_000269.3:n.616+5550_616+5554delinsGTGTT
NM_001304569.2:c.709+5550_709+5554delinsGTGTT	NP_001291498.1:n.709+5550_709+5554delinsGTGTT
NM_003987.5:c.617-28_617-24delinsGTGTT	NP_003978.3:n.617-28_617-24delinsGTGTT
NM_003988.5:c.616+5550_616+5554delinsGTGTT	NP_003979.2:n.616+5550_616+5554delinsGTGTT
NM_003989.5:c.616+5550_616+5554delinsGTGTT	NP_003980.3:n.616+5550_616+5554delinsGTGTT
NM_003990.5:c.617-28_617-24delinsGTGTT	NP_003981.3:n.617-28_617-24delinsGTGTT