Canonical Allele Identifier: CA2580081092

Gene: PAX2

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100750702_100750704del , CM000672.2:g.100750702_100750704del	GRCh38
NC_000010.10:g.102510459_102510461del , CM000672.1:g.102510459_102510461del	GRCh37
NC_000010.9:g.102500449_102500451del	NCBI36
NG_008680.1:g.9992_9994del
NG_008680.2:g.19994_19996del

Transcript Alleles

HGVS	Amino-acid Change
NM_000278.5:c.221_223del MANE Select	NP_000269.3:p.Glu74_Thr75delinsAla
ENST00000355243.8:c.221_223del MANE Select	ENSP00000347385.3:p.Glu74_Thr75delinsAla
NM_000278.3:c.221_223del	NP_000269.2:p.Glu74_Thr75delinsAla
NM_000278.4:c.221_223del	NP_000269.3:p.Glu74_Thr75delinsAla
NM_001304569.1:c.314_316del	NP_001291498.1:p.Glu105_Thr106delinsAla
NM_001304569.2:c.314_316del	NP_001291498.1:p.Glu105_Thr106delinsAla
NM_003987.3:c.221_223del	NP_003978.2:p.Glu74_Thr75delinsAla
NM_003987.4:c.221_223del	NP_003978.3:p.Glu74_Thr75delinsAla
NM_003987.5:c.221_223del	NP_003978.3:p.Glu74_Thr75delinsAla
NM_003988.3:c.221_223del	NP_003979.2:p.Glu74_Thr75delinsAla
NM_003988.4:c.221_223del	NP_003979.2:p.Glu74_Thr75delinsAla
NM_003988.5:c.221_223del	NP_003979.2:p.Glu74_Thr75delinsAla
NM_003989.3:c.221_223del	NP_003980.2:p.Glu74_Thr75delinsAla
NM_003989.4:c.221_223del	NP_003980.3:p.Glu74_Thr75delinsAla
NM_003989.5:c.221_223del	NP_003980.3:p.Glu74_Thr75delinsAla
NM_003990.3:c.221_223del	NP_003981.2:p.Glu74_Thr75delinsAla
NM_003990.4:c.221_223del	NP_003981.3:p.Glu74_Thr75delinsAla
NM_003990.5:c.221_223del	NP_003981.3:p.Glu74_Thr75delinsAla
ENST00000355243.7:c.221_223del	ENSP00000347385.2:p.Glu74_Thr75delinsAla
ENST00000361791.7:c.218_220del	ENSP00000355069.4:p.Glu73_Thr74delinsAla
ENST00000370296.6:c.221_223del	ENSP00000359319.3:p.Glu74_Thr75delinsAla
ENST00000427256.5:c.221_223del	ENSP00000398652.1:p.Glu74_Thr75delinsAla
ENST00000427256.6:c.221_223del	ENSP00000398652.2:p.Glu74_Thr75delinsAla
ENST00000428433.5:c.221_223del	ENSP00000396259.1:p.Glu74_Thr75delinsAla
ENST00000553492.5:n.131+14969_131+14971del
ENST00000554172.2:c.233_235del	ENSP00000452489.2:p.Glu78_Thr79delinsAla
ENST00000554363.2:n.125+4399_125+4401del
ENST00000679374.1:c.203_205del	ENSP00000506041.1:p.Glu68_Thr69delinsAla
ENST00000707078.1:c.314_316del	ENSP00000516729.1:p.Glu105_Thr106delinsAla
ENST00000707079.1:c.221_223del	ENSP00000516730.1:p.Glu74_Thr75delinsAla