Canonical Allele Identifier: CA2695212551

Gene: PAX2

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100749841_100749850del , CM000672.2:g.100749841_100749850del	GRCh38
NC_000010.10:g.102509598_102509607del , CM000672.1:g.102509598_102509607del	GRCh37
NC_000010.9:g.102499588_102499597del	NCBI36
NG_008680.1:g.9131_9140del
NG_008680.2:g.19133_19142del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000707078.1:c.232_241del	ENSP00000516729.1:p.Gln78GlyfsTer?
ENST00000707079.1:c.139_148del	ENSP00000516730.1:p.Gln47GlyfsTer?
ENST00000355243.8:c.139_148del MANE Select	ENSP00000347385.3:p.Gln47GlyfsTer?
ENST00000427256.6:c.139_148del	ENSP00000398652.2:p.Gln47GlyfsTer?
ENST00000679374.1:c.121_130del	ENSP00000506041.1:p.Gln41GlyfsTer?
ENST00000355243.7:c.139_148del	ENSP00000347385.2:p.Gln47GlyfsTer?
ENST00000361791.7:c.136_145del	ENSP00000355069.4:p.Gln46GlyfsTer?
ENST00000370296.6:c.139_148del	ENSP00000359319.3:p.Gln47GlyfsTer?
ENST00000427256.5:c.139_148del	ENSP00000398652.1:p.Gln47GlyfsTer?
ENST00000428433.5:c.139_148del	ENSP00000396259.1:p.Gln47GlyfsTer?
ENST00000483202.2:n.1141_1150del
ENST00000553492.5:n.131+14108_131+14117del
ENST00000554172.2:c.151_160del	ENSP00000452489.2:p.Gln51GlyfsTer?
ENST00000554363.2:n.125+3538_125+3547del
NM_000278.3:c.139_148del	NP_000269.2:p.Gln47GlyfsTer?
NM_001304569.1:c.232_241del	NP_001291498.1:p.Gln78GlyfsTer?
NM_003987.3:c.139_148del	NP_003978.2:p.Gln47GlyfsTer?
NM_003988.3:c.139_148del	NP_003979.2:p.Gln47GlyfsTer?
NM_003989.3:c.139_148del	NP_003980.2:p.Gln47GlyfsTer?
NM_003990.3:c.139_148del	NP_003981.2:p.Gln47GlyfsTer?
NM_000278.4:c.139_148del	NP_000269.3:p.Gln47GlyfsTer?
NM_003987.4:c.139_148del	NP_003978.3:p.Gln47GlyfsTer?
NM_003988.4:c.139_148del	NP_003979.2:p.Gln47GlyfsTer?
NM_003989.4:c.139_148del	NP_003980.3:p.Gln47GlyfsTer?
NM_003990.4:c.139_148del	NP_003981.3:p.Gln47GlyfsTer?
NM_000278.5:c.139_148del MANE Select	NP_000269.3:p.Gln47GlyfsTer?
NM_001304569.2:c.232_241del	NP_001291498.1:p.Gln78GlyfsTer?
NM_003987.5:c.139_148del	NP_003978.3:p.Gln47GlyfsTer?
NM_003988.5:c.139_148del	NP_003979.2:p.Gln47GlyfsTer?
NM_003989.5:c.139_148del	NP_003980.3:p.Gln47GlyfsTer?
NM_003990.5:c.139_148del	NP_003981.3:p.Gln47GlyfsTer?