Canonical Allele Identifier: CA2695212549
Gene: PAX2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.100749794_100749799del , CM000672.2:g.100749794_100749799del GRCh38
NC_000010.10:g.102509551_102509556del , CM000672.1:g.102509551_102509556del GRCh37
NC_000010.9:g.102499541_102499546del NCBI36
NG_008680.1:g.9084_9089del
NG_008680.2:g.19086_19091del

Transcript Alleles

HGVS Amino-acid Change
ENST00000707078.1:c.185_190del ENSP00000516729.1:p.Arg62_Pro63del
ENST00000707079.1:c.92_97del ENSP00000516730.1:p.Arg31_Pro32del
ENST00000355243.8:c.92_97del MANE Select ENSP00000347385.3:p.Arg31_Pro32del
ENST00000427256.6:c.92_97del ENSP00000398652.2:p.Arg31_Pro32del
ENST00000679374.1:c.74_79del ENSP00000506041.1:p.Arg25_Pro26del
ENST00000355243.7:c.92_97del ENSP00000347385.2:p.Arg31_Pro32del
ENST00000361791.7:c.89_94del ENSP00000355069.4:p.Arg30_Pro31del
ENST00000370296.6:c.92_97del ENSP00000359319.3:p.Arg31_Pro32del
ENST00000427256.5:c.92_97del ENSP00000398652.1:p.Arg31_Pro32del
ENST00000428433.5:c.92_97del ENSP00000396259.1:p.Arg31_Pro32del
ENST00000483202.2:n.1094_1099del
ENST00000553492.5:n.131+14061_131+14066del
ENST00000554172.2:c.104_109del ENSP00000452489.2:p.Arg35_Pro36del
ENST00000554363.2:n.125+3491_125+3496del
NM_000278.3:c.92_97del NP_000269.2:p.Arg31_Pro32del
NM_001304569.1:c.185_190del NP_001291498.1:p.Arg62_Pro63del
NM_003987.3:c.92_97del NP_003978.2:p.Arg31_Pro32del
NM_003988.3:c.92_97del NP_003979.2:p.Arg31_Pro32del
NM_003989.3:c.92_97del NP_003980.2:p.Arg31_Pro32del
NM_003990.3:c.92_97del NP_003981.2:p.Arg31_Pro32del
NM_000278.4:c.92_97del NP_000269.3:p.Arg31_Pro32del
NM_003987.4:c.92_97del NP_003978.3:p.Arg31_Pro32del
NM_003988.4:c.92_97del NP_003979.2:p.Arg31_Pro32del
NM_003989.4:c.92_97del NP_003980.3:p.Arg31_Pro32del
NM_003990.4:c.92_97del NP_003981.3:p.Arg31_Pro32del
NM_000278.5:c.92_97del MANE Select NP_000269.3:p.Arg31_Pro32del
NM_001304569.2:c.185_190del NP_001291498.1:p.Arg62_Pro63del
NM_003987.5:c.92_97del NP_003978.3:p.Arg31_Pro32del
NM_003988.5:c.92_97del NP_003979.2:p.Arg31_Pro32del
NM_003989.5:c.92_97del NP_003980.3:p.Arg31_Pro32del
NM_003990.5:c.92_97del NP_003981.3:p.Arg31_Pro32del