Canonical Allele Identifier: CA1931907327

Gene: PAX2

Linked Data

• dbSNP Id: rs1845367426

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100749798_100749811del , CM000672.2:g.100749798_100749811del	GRCh38
NC_000010.10:g.102509555_102509568del , CM000672.1:g.102509555_102509568del	GRCh37
NC_000010.9:g.102499545_102499558del	NCBI36
NG_008680.1:g.9088_9101del
NG_008680.2:g.19090_19103del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000707078.1:c.189_202del	ENSP00000516729.1:p.Leu64GlufsTer16
ENST00000707079.1:c.96_109del	ENSP00000516730.1:p.Leu33GlufsTer16
ENST00000355243.8:c.96_109del MANE Select	ENSP00000347385.3:p.Leu33GlufsTer16
ENST00000427256.6:c.96_109del	ENSP00000398652.2:p.Leu33GlufsTer16
ENST00000679374.1:c.78_91del	ENSP00000506041.1:p.Leu27GlufsTer16
ENST00000355243.7:c.96_109del	ENSP00000347385.2:p.Leu33GlufsTer16
ENST00000361791.7:c.93_106del	ENSP00000355069.4:p.Leu32GlufsTer16
ENST00000370296.6:c.96_109del	ENSP00000359319.3:p.Leu33GlufsTer16
ENST00000427256.5:c.96_109del	ENSP00000398652.1:p.Leu33GlufsTer16
ENST00000428433.5:c.96_109del	ENSP00000396259.1:p.Leu33GlufsTer16
ENST00000483202.2:n.1098_1111del
ENST00000553492.5:n.131+14065_131+14078del
ENST00000554172.2:c.108_121del	ENSP00000452489.2:p.Leu37GlufsTer16
ENST00000554363.2:n.125+3495_125+3508del
NM_000278.3:c.96_109del	NP_000269.2:p.Leu33GlufsTer16
NM_001304569.1:c.189_202del	NP_001291498.1:p.Leu64GlufsTer16
NM_003987.3:c.96_109del	NP_003978.2:p.Leu33GlufsTer16
NM_003988.3:c.96_109del	NP_003979.2:p.Leu33GlufsTer16
NM_003989.3:c.96_109del	NP_003980.2:p.Leu33GlufsTer16
NM_003990.3:c.96_109del	NP_003981.2:p.Leu33GlufsTer16
NM_000278.4:c.96_109del	NP_000269.3:p.Leu33GlufsTer16
NM_003987.4:c.96_109del	NP_003978.3:p.Leu33GlufsTer16
NM_003988.4:c.96_109del	NP_003979.2:p.Leu33GlufsTer16
NM_003989.4:c.96_109del	NP_003980.3:p.Leu33GlufsTer16
NM_003990.4:c.96_109del	NP_003981.3:p.Leu33GlufsTer16
NM_000278.5:c.96_109del MANE Select	NP_000269.3:p.Leu33GlufsTer16
NM_001304569.2:c.189_202del	NP_001291498.1:p.Leu64GlufsTer16
NM_003987.5:c.96_109del	NP_003978.3:p.Leu33GlufsTer16
NM_003988.5:c.96_109del	NP_003979.2:p.Leu33GlufsTer16
NM_003989.5:c.96_109del	NP_003980.3:p.Leu33GlufsTer16
NM_003990.5:c.96_109del	NP_003981.3:p.Leu33GlufsTer16