Canonical Allele Identifier: CA2695212553

Gene: PAX2

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100749855_100749857delinsTT , CM000672.2:g.100749855_100749857delinsTT	GRCh38
NC_000010.10:g.102509612_102509614delinsTT , CM000672.1:g.102509612_102509614delinsTT	GRCh37
NC_000010.9:g.102499602_102499604delinsTT	NCBI36
NG_008680.1:g.9145_9147delinsTT
NG_008680.2:g.19147_19149delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000707078.1:c.246_248delinsTT	ENSP00000516729.1:p.Cys83LeufsTer?
ENST00000707079.1:c.153_155delinsTT	ENSP00000516730.1:p.Cys52LeufsTer?
ENST00000355243.8:c.153_155delinsTT MANE Select	ENSP00000347385.3:p.Cys52LeufsTer?
ENST00000427256.6:c.153_155delinsTT	ENSP00000398652.2:p.Cys52LeufsTer?
ENST00000679374.1:c.135_137delinsTT	ENSP00000506041.1:p.Cys46LeufsTer?
ENST00000355243.7:c.153_155delinsTT	ENSP00000347385.2:p.Cys52LeufsTer?
ENST00000361791.7:c.150_152delinsTT	ENSP00000355069.4:p.Cys51LeufsTer?
ENST00000370296.6:c.153_155delinsTT	ENSP00000359319.3:p.Cys52LeufsTer?
ENST00000427256.5:c.153_155delinsTT	ENSP00000398652.1:p.Cys52LeufsTer?
ENST00000428433.5:c.153_155delinsTT	ENSP00000396259.1:p.Cys52LeufsTer?
ENST00000483202.2:n.1155_1157delinsTT
ENST00000553492.5:n.131+14122_131+14124delinsTT
ENST00000554172.2:c.165_167delinsTT	ENSP00000452489.2:p.Cys56LeufsTer?
ENST00000554363.2:n.125+3552_125+3554delinsTT
NM_000278.3:c.153_155delinsTT	NP_000269.2:p.Cys52LeufsTer?
NM_001304569.1:c.246_248delinsTT	NP_001291498.1:p.Cys83LeufsTer?
NM_003987.3:c.153_155delinsTT	NP_003978.2:p.Cys52LeufsTer?
NM_003988.3:c.153_155delinsTT	NP_003979.2:p.Cys52LeufsTer?
NM_003989.3:c.153_155delinsTT	NP_003980.2:p.Cys52LeufsTer?
NM_003990.3:c.153_155delinsTT	NP_003981.2:p.Cys52LeufsTer?
NM_000278.4:c.153_155delinsTT	NP_000269.3:p.Cys52LeufsTer?
NM_003987.4:c.153_155delinsTT	NP_003978.3:p.Cys52LeufsTer?
NM_003988.4:c.153_155delinsTT	NP_003979.2:p.Cys52LeufsTer?
NM_003989.4:c.153_155delinsTT	NP_003980.3:p.Cys52LeufsTer?
NM_003990.4:c.153_155delinsTT	NP_003981.3:p.Cys52LeufsTer?
NM_000278.5:c.153_155delinsTT MANE Select	NP_000269.3:p.Cys52LeufsTer?
NM_001304569.2:c.246_248delinsTT	NP_001291498.1:p.Cys83LeufsTer?
NM_003987.5:c.153_155delinsTT	NP_003978.3:p.Cys52LeufsTer?
NM_003988.5:c.153_155delinsTT	NP_003979.2:p.Cys52LeufsTer?
NM_003989.5:c.153_155delinsTT	NP_003980.3:p.Cys52LeufsTer?
NM_003990.5:c.153_155delinsTT	NP_003981.3:p.Cys52LeufsTer?