Canonical Allele Identifier: CA2695212554

Gene: PAX2

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100749886_100749900del , CM000672.2:g.100749886_100749900del	GRCh38
NC_000010.10:g.102509643_102509657del , CM000672.1:g.102509643_102509657del	GRCh37
NC_000010.9:g.102499633_102499647del	NCBI36
NG_008680.1:g.9176_9190del
NG_008680.2:g.19178_19192del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000707078.1:c.277_291del	ENSP00000516729.1:p.His93_Ser97del
ENST00000707079.1:c.184_198del	ENSP00000516730.1:p.His62_Ser66del
ENST00000355243.8:c.184_198del MANE Select	ENSP00000347385.3:p.His62_Ser66del
ENST00000427256.6:c.184_198del	ENSP00000398652.2:p.His62_Ser66del
ENST00000679374.1:c.166_180del	ENSP00000506041.1:p.His56_Ser60del
ENST00000355243.7:c.184_198del	ENSP00000347385.2:p.His62_Ser66del
ENST00000361791.7:c.181_195del	ENSP00000355069.4:p.His61_Ser65del
ENST00000370296.6:c.184_198del	ENSP00000359319.3:p.His62_Ser66del
ENST00000427256.5:c.184_198del	ENSP00000398652.1:p.His62_Ser66del
ENST00000428433.5:c.184_198del	ENSP00000396259.1:p.His62_Ser66del
ENST00000483202.2:n.1186_1200del
ENST00000553492.5:n.131+14153_131+14167del
ENST00000554172.2:c.196_210del	ENSP00000452489.2:p.His66_Ser70del
ENST00000554363.2:n.125+3583_125+3597del
NM_000278.3:c.184_198del	NP_000269.2:p.His62_Ser66del
NM_001304569.1:c.277_291del	NP_001291498.1:p.His93_Ser97del
NM_003987.3:c.184_198del	NP_003978.2:p.His62_Ser66del
NM_003988.3:c.184_198del	NP_003979.2:p.His62_Ser66del
NM_003989.3:c.184_198del	NP_003980.2:p.His62_Ser66del
NM_003990.3:c.184_198del	NP_003981.2:p.His62_Ser66del
NM_000278.4:c.184_198del	NP_000269.3:p.His62_Ser66del
NM_003987.4:c.184_198del	NP_003978.3:p.His62_Ser66del
NM_003988.4:c.184_198del	NP_003979.2:p.His62_Ser66del
NM_003989.4:c.184_198del	NP_003980.3:p.His62_Ser66del
NM_003990.4:c.184_198del	NP_003981.3:p.His62_Ser66del
NM_000278.5:c.184_198del MANE Select	NP_000269.3:p.His62_Ser66del
NM_001304569.2:c.277_291del	NP_001291498.1:p.His93_Ser97del
NM_003987.5:c.184_198del	NP_003978.3:p.His62_Ser66del
NM_003988.5:c.184_198del	NP_003979.2:p.His62_Ser66del
NM_003989.5:c.184_198del	NP_003980.3:p.His62_Ser66del
NM_003990.5:c.184_198del	NP_003981.3:p.His62_Ser66del