Canonical Allele Identifier: CA256974
Gene: PAX2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.100749778del , CM000672.2:g.100749778del GRCh38
NC_000010.10:g.102509535del , CM000672.1:g.102509535del GRCh37
NC_000010.9:g.102499525del NCBI36
NG_008680.1:g.9068del
NG_008680.2:g.19070del

Transcript Alleles

HGVS Amino-acid Change
ENST00000707078.1:c.169del ENSP00000516729.1:p.Val57CysfsTer3
ENST00000707079.1:c.76del ENSP00000516730.1:p.Val26CysfsTer3
ENST00000355243.8:c.76del MANE Select ENSP00000347385.3:p.Val26CysfsTer3
ENST00000427256.6:c.76del ENSP00000398652.2:p.Val26CysfsTer3
ENST00000679374.1:c.58del ENSP00000506041.1:p.Val20CysfsTer3
ENST00000355243.7:c.76del ENSP00000347385.2:p.Val26CysfsTer3
ENST00000361791.7:c.73del ENSP00000355069.4:p.Val25CysfsTer3
ENST00000370296.6:c.76del ENSP00000359319.3:p.Val26CysfsTer3
ENST00000427256.5:c.76del ENSP00000398652.1:p.Val26CysfsTer3
ENST00000428433.5:c.76del ENSP00000396259.1:p.Val26CysfsTer3
ENST00000483202.2:n.1078del
ENST00000553492.5:n.131+14045del
ENST00000554172.2:c.88del ENSP00000452489.2:p.Val30CysfsTer3
ENST00000554363.2:n.125+3475del
NM_000278.3:c.76del NP_000269.2:p.Val26CysfsTer3
NM_001304569.1:c.169del NP_001291498.1:p.Val57CysfsTer3
NM_003987.3:c.76del NP_003978.2:p.Val26CysfsTer3
NM_003988.3:c.76del NP_003979.2:p.Val26CysfsTer3
NM_003989.3:c.76del NP_003980.2:p.Val26CysfsTer3
NM_003990.3:c.76del NP_003981.2:p.Val26CysfsTer3
NM_000278.4:c.76del NP_000269.3:p.Val26CysfsTer3
NM_003987.4:c.76del NP_003978.3:p.Val26CysfsTer3
NM_003988.4:c.76del NP_003979.2:p.Val26CysfsTer3
NM_003989.4:c.76del NP_003980.3:p.Val26CysfsTer3
NM_003990.4:c.76del NP_003981.3:p.Val26CysfsTer3
NM_000278.5:c.76del MANE Select NP_000269.3:p.Val26CysfsTer3
NM_001304569.2:c.169del NP_001291498.1:p.Val57CysfsTer3
NM_003987.5:c.76del NP_003978.3:p.Val26CysfsTer3
NM_003988.5:c.76del NP_003979.2:p.Val26CysfsTer3
NM_003989.5:c.76del NP_003980.3:p.Val26CysfsTer3
NM_003990.5:c.76del NP_003981.3:p.Val26CysfsTer3
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