Canonical Allele Identifier: CA2695212546

Gene: PAX2

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100749771_100749772delinsA , CM000672.2:g.100749771_100749772delinsA	GRCh38
NC_000010.10:g.102509528_102509529delinsA , CM000672.1:g.102509528_102509529delinsA	GRCh37
NC_000010.9:g.102499518_102499519delinsA	NCBI36
NG_008680.1:g.9061_9062delinsA
NG_008680.2:g.19063_19064delinsA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000707078.1:c.162_163delinsA	ENSP00000516729.1:p.Val57CysfsTer3
ENST00000707079.1:c.69_70delinsA	ENSP00000516730.1:p.Val26CysfsTer3
ENST00000355243.8:c.69_70delinsA MANE Select	ENSP00000347385.3:p.Val26CysfsTer3
ENST00000427256.6:c.69_70delinsA	ENSP00000398652.2:p.Val26CysfsTer3
ENST00000679374.1:c.51_52delinsA	ENSP00000506041.1:p.Val20CysfsTer3
ENST00000355243.7:c.69_70delinsA	ENSP00000347385.2:p.Val26CysfsTer3
ENST00000361791.7:c.66_67delinsA	ENSP00000355069.4:p.Val25CysfsTer3
ENST00000370296.6:c.69_70delinsA	ENSP00000359319.3:p.Val26CysfsTer3
ENST00000427256.5:c.69_70delinsA	ENSP00000398652.1:p.Val26CysfsTer3
ENST00000428433.5:c.69_70delinsA	ENSP00000396259.1:p.Val26CysfsTer3
ENST00000483202.2:n.1071_1072delinsA
ENST00000553492.5:n.131+14038_131+14039delinsA
ENST00000554172.2:c.81_82delinsA	ENSP00000452489.2:p.Val30CysfsTer3
ENST00000554363.2:n.125+3468_125+3469delinsA
NM_000278.3:c.69_70delinsA	NP_000269.2:p.Val26CysfsTer3
NM_001304569.1:c.162_163delinsA	NP_001291498.1:p.Val57CysfsTer3
NM_003987.3:c.69_70delinsA	NP_003978.2:p.Val26CysfsTer3
NM_003988.3:c.69_70delinsA	NP_003979.2:p.Val26CysfsTer3
NM_003989.3:c.69_70delinsA	NP_003980.2:p.Val26CysfsTer3
NM_003990.3:c.69_70delinsA	NP_003981.2:p.Val26CysfsTer3
NM_000278.4:c.69_70delinsA	NP_000269.3:p.Val26CysfsTer3
NM_003987.4:c.69_70delinsA	NP_003978.3:p.Val26CysfsTer3
NM_003988.4:c.69_70delinsA	NP_003979.2:p.Val26CysfsTer3
NM_003989.4:c.69_70delinsA	NP_003980.3:p.Val26CysfsTer3
NM_003990.4:c.69_70delinsA	NP_003981.3:p.Val26CysfsTer3
NM_000278.5:c.69_70delinsA MANE Select	NP_000269.3:p.Val26CysfsTer3
NM_001304569.2:c.162_163delinsA	NP_001291498.1:p.Val57CysfsTer3
NM_003987.5:c.69_70delinsA	NP_003978.3:p.Val26CysfsTer3
NM_003988.5:c.69_70delinsA	NP_003979.2:p.Val26CysfsTer3
NM_003989.5:c.69_70delinsA	NP_003980.3:p.Val26CysfsTer3
NM_003990.5:c.69_70delinsA	NP_003981.3:p.Val26CysfsTer3