Canonical Allele Identifier: CA1931907325

Gene: PAX2

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100749797_100749811delinsCCCTACCCGACGTGG , CM000672.2:g.100749797_100749811delinsCCCTACCCGACGTGG	GRCh38
NC_000010.10:g.102509554_102509568delinsCCCTACCCGACGTGG , CM000672.1:g.102509554_102509568delinsCCCTACCCGACGTGG	GRCh37
NC_000010.9:g.102499544_102499558delinsCCCTACCCGACGTGG	NCBI36
NG_008680.1:g.9087_9101delinsCCCTACCCGACGTGG
NG_008680.2:g.19089_19103delinsCCCTACCCGACGTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000707078.1:c.188_202delinsCCCTACCCGACGTGG	ENSP00000516729.1:p.Pro63=
ENST00000707079.1:c.95_109delinsCCCTACCCGACGTGG	ENSP00000516730.1:p.Pro32=
ENST00000355243.8:c.95_109delinsCCCTACCCGACGTGG MANE Select	ENSP00000347385.3:p.Pro32=
ENST00000427256.6:c.95_109delinsCCCTACCCGACGTGG	ENSP00000398652.2:p.Pro32=
ENST00000679374.1:c.77_91delinsCCCTACCCGACGTGG	ENSP00000506041.1:p.Pro26=
ENST00000355243.7:c.95_109delinsCCCTACCCGACGTGG	ENSP00000347385.2:p.Pro32=
ENST00000361791.7:c.92_106delinsCCCTACCCGACGTGG	ENSP00000355069.4:p.Pro31=
ENST00000370296.6:c.95_109delinsCCCTACCCGACGTGG	ENSP00000359319.3:p.Pro32=
ENST00000427256.5:c.95_109delinsCCCTACCCGACGTGG	ENSP00000398652.1:p.Pro32=
ENST00000428433.5:c.95_109delinsCCCTACCCGACGTGG	ENSP00000396259.1:p.Pro32=
ENST00000483202.2:n.1097_1111delinsCCCTACCCGACGTGG
ENST00000553492.5:n.131+14064_131+14078delinsCCCTACCCGACGTGG
ENST00000554172.2:c.107_121delinsCCCTACCCGACGTGG	ENSP00000452489.2:p.Pro36=
ENST00000554363.2:n.125+3494_125+3508delinsCCCTACCCGACGTGG
NM_000278.3:c.95_109delinsCCCTACCCGACGTGG	NP_000269.2:p.Pro32=
NM_001304569.1:c.188_202delinsCCCTACCCGACGTGG	NP_001291498.1:p.Pro63=
NM_003987.3:c.95_109delinsCCCTACCCGACGTGG	NP_003978.2:p.Pro32=
NM_003988.3:c.95_109delinsCCCTACCCGACGTGG	NP_003979.2:p.Pro32=
NM_003989.3:c.95_109delinsCCCTACCCGACGTGG	NP_003980.2:p.Pro32=
NM_003990.3:c.95_109delinsCCCTACCCGACGTGG	NP_003981.2:p.Pro32=
NM_000278.4:c.95_109delinsCCCTACCCGACGTGG	NP_000269.3:p.Pro32=
NM_003987.4:c.95_109delinsCCCTACCCGACGTGG	NP_003978.3:p.Pro32=
NM_003988.4:c.95_109delinsCCCTACCCGACGTGG	NP_003979.2:p.Pro32=
NM_003989.4:c.95_109delinsCCCTACCCGACGTGG	NP_003980.3:p.Pro32=
NM_003990.4:c.95_109delinsCCCTACCCGACGTGG	NP_003981.3:p.Pro32=
NM_000278.5:c.95_109delinsCCCTACCCGACGTGG MANE Select	NP_000269.3:p.Pro32=
NM_001304569.2:c.188_202delinsCCCTACCCGACGTGG	NP_001291498.1:p.Pro63=
NM_003987.5:c.95_109delinsCCCTACCCGACGTGG	NP_003978.3:p.Pro32=
NM_003988.5:c.95_109delinsCCCTACCCGACGTGG	NP_003979.2:p.Pro32=
NM_003989.5:c.95_109delinsCCCTACCCGACGTGG	NP_003980.3:p.Pro32=
NM_003990.5:c.95_109delinsCCCTACCCGACGTGG	NP_003981.3:p.Pro32=