Canonical Allele Identifier: CA1931907342

Gene: PAX2

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100749831_100749853delinsGCTGGCCCACCAGGGTGTGCGGC , CM000672.2:g.100749831_100749853delinsGCTGGCCCACCAGGGTGTGCGGC	GRCh38
NC_000010.10:g.102509588_102509610delinsGCTGGCCCACCAGGGTGTGCGGC , CM000672.1:g.102509588_102509610delinsGCTGGCCCACCAGGGTGTGCGGC	GRCh37
NC_000010.9:g.102499578_102499600delinsGCTGGCCCACCAGGGTGTGCGGC	NCBI36
NG_008680.1:g.9121_9143delinsGCTGGCCCACCAGGGTGTGCGGC
NG_008680.2:g.19123_19145delinsGCTGGCCCACCAGGGTGTGCGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000707078.1:c.222_244delinsGCTGGCCCACCAGGGTGTGCGGC	ENSP00000516729.1:p.Glu74=
ENST00000707079.1:c.129_151delinsGCTGGCCCACCAGGGTGTGCGGC	ENSP00000516730.1:p.Glu43=
ENST00000355243.8:c.129_151delinsGCTGGCCCACCAGGGTGTGCGGC MANE Select	ENSP00000347385.3:p.Glu43=
ENST00000427256.6:c.129_151delinsGCTGGCCCACCAGGGTGTGCGGC	ENSP00000398652.2:p.Glu43=
ENST00000679374.1:c.111_133delinsGCTGGCCCACCAGGGTGTGCGGC	ENSP00000506041.1:p.Glu37=
ENST00000355243.7:c.129_151delinsGCTGGCCCACCAGGGTGTGCGGC	ENSP00000347385.2:p.Glu43=
ENST00000361791.7:c.126_148delinsGCTGGCCCACCAGGGTGTGCGGC	ENSP00000355069.4:p.Glu42=
ENST00000370296.6:c.129_151delinsGCTGGCCCACCAGGGTGTGCGGC	ENSP00000359319.3:p.Glu43=
ENST00000427256.5:c.129_151delinsGCTGGCCCACCAGGGTGTGCGGC	ENSP00000398652.1:p.Glu43=
ENST00000428433.5:c.129_151delinsGCTGGCCCACCAGGGTGTGCGGC	ENSP00000396259.1:p.Glu43=
ENST00000483202.2:n.1131_1153delinsGCTGGCCCACCAGGGTGTGCGGC
ENST00000553492.5:n.131+14098_131+14120delinsGCTGGCCCACCAGGGTGTGCGGC
ENST00000554172.2:c.141_163delinsGCTGGCCCACCAGGGTGTGCGGC	ENSP00000452489.2:p.Glu47=
ENST00000554363.2:n.125+3528_125+3550delinsGCTGGCCCACCAGGGTGTGCGGC
NM_000278.3:c.129_151delinsGCTGGCCCACCAGGGTGTGCGGC	NP_000269.2:p.Glu43=
NM_001304569.1:c.222_244delinsGCTGGCCCACCAGGGTGTGCGGC	NP_001291498.1:p.Glu74=
NM_003987.3:c.129_151delinsGCTGGCCCACCAGGGTGTGCGGC	NP_003978.2:p.Glu43=
NM_003988.3:c.129_151delinsGCTGGCCCACCAGGGTGTGCGGC	NP_003979.2:p.Glu43=
NM_003989.3:c.129_151delinsGCTGGCCCACCAGGGTGTGCGGC	NP_003980.2:p.Glu43=
NM_003990.3:c.129_151delinsGCTGGCCCACCAGGGTGTGCGGC	NP_003981.2:p.Glu43=
NM_000278.4:c.129_151delinsGCTGGCCCACCAGGGTGTGCGGC	NP_000269.3:p.Glu43=
NM_003987.4:c.129_151delinsGCTGGCCCACCAGGGTGTGCGGC	NP_003978.3:p.Glu43=
NM_003988.4:c.129_151delinsGCTGGCCCACCAGGGTGTGCGGC	NP_003979.2:p.Glu43=
NM_003989.4:c.129_151delinsGCTGGCCCACCAGGGTGTGCGGC	NP_003980.3:p.Glu43=
NM_003990.4:c.129_151delinsGCTGGCCCACCAGGGTGTGCGGC	NP_003981.3:p.Glu43=
NM_000278.5:c.129_151delinsGCTGGCCCACCAGGGTGTGCGGC MANE Select	NP_000269.3:p.Glu43=
NM_001304569.2:c.222_244delinsGCTGGCCCACCAGGGTGTGCGGC	NP_001291498.1:p.Glu74=
NM_003987.5:c.129_151delinsGCTGGCCCACCAGGGTGTGCGGC	NP_003978.3:p.Glu43=
NM_003988.5:c.129_151delinsGCTGGCCCACCAGGGTGTGCGGC	NP_003979.2:p.Glu43=
NM_003989.5:c.129_151delinsGCTGGCCCACCAGGGTGTGCGGC	NP_003980.3:p.Glu43=
NM_003990.5:c.129_151delinsGCTGGCCCACCAGGGTGTGCGGC	NP_003981.3:p.Glu43=