Canonical Allele Identifier: CA2695212555

Gene: PAX2

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100750692_100750713del , CM000672.2:g.100750692_100750713del	GRCh38
NC_000010.10:g.102510449_102510470del , CM000672.1:g.102510449_102510470del	GRCh37
NC_000010.9:g.102500439_102500460del	NCBI36
NG_008680.1:g.9982_10003del
NG_008680.2:g.19984_20005del

Transcript Alleles

HGVS	Amino-acid change
ENST00000707078.1:c.306-2_325del
ENST00000707079.1:c.213-2_232del
ENST00000355243.8:c.213-2_232del
ENST00000427256.6:c.213-2_232del
ENST00000679374.1:c.195-2_214del
ENST00000355243.7:c.213-2_232del
ENST00000361791.7:c.210-2_229del
ENST00000370296.6:c.213-2_232del
ENST00000427256.5:c.213-2_232del
ENST00000428433.5:c.213-2_232del
ENST00000553492.5:n.131+14959_131+14980del
ENST00000554172.2:c.225-2_244del
ENST00000554363.2:n.125+4389_125+4410del
NM_000278.3:c.213-2_232del
NM_001304569.1:c.306-2_325del
NM_003987.3:c.213-2_232del
NM_003988.3:c.213-2_232del
NM_003989.3:c.213-2_232del
NM_003990.3:c.213-2_232del
NM_000278.4:c.213-2_232del
NM_003987.4:c.213-2_232del
NM_003988.4:c.213-2_232del
NM_003989.4:c.213-2_232del
NM_003990.4:c.213-2_232del
NM_000278.5:c.213-2_232del
NM_001304569.2:c.306-2_325del
NM_003987.5:c.213-2_232del
NM_003988.5:c.213-2_232del
NM_003989.5:c.213-2_232del
NM_003990.5:c.213-2_232del