Canonical Allele Identifier: CA2695197692

Gene: PAX3

Linked Data

• ClinVar Variation Id: 2631393
• ClinVar RCV Id: RCV003405911

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.222201988_222201993delinsGGTGGAC , CM000664.2:g.222201988_222201993delinsGGTGGAC	GRCh38
NC_000002.11:g.223066707_223066712delinsGGTGGAC , CM000664.1:g.223066707_223066712delinsGGTGGAC	GRCh37
NC_000002.10:g.222774951_222774956delinsGGTGGAC	NCBI36
NG_011632.1:g.101989_101994delinsGTCCACC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336840.11:c.1174-551_1174-546delinsGTCCACC	ENSP00000338767.5:n.1174-551_1174-546delinsGTCCACC
ENST00000344493.9:c.1174-551_1174-546delinsGTCCACC	ENSP00000342092.4:n.1174-551_1174-546delinsGTCCACC
ENST00000350526.9:c.1371_1376delinsGTCCACC	ENSP00000343052.4:p.Tyr458SerfsTer18
ENST00000392070.7:c.1371_1376delinsGTCCACC MANE Select	ENSP00000375922.3:p.Tyr458SerfsTer?
ENST00000464706.6:n.809_814delinsGTCCACC
ENST00000644699.1:n.697_702delinsGTCCACC
ENST00000646154.1:n.1185_1190delinsGTCCACC
ENST00000336840.10:c.1174-551_1174-546delinsGTCCACC	ENSP00000338767.5:n.1174-551_1174-546delinsGTCCACC
ENST00000344493.8:c.1174-551_1174-546delinsGTCCACC	ENSP00000342092.4:n.1174-551_1174-546delinsGTCCACC
ENST00000350526.8:c.1371_1376delinsGTCCACC	ENSP00000343052.4:p.Tyr458SerfsTer18
ENST00000392069.6:c.1371_1376delinsGTCCACC	ENSP00000375921.2:p.Tyr458SerfsTer?
ENST00000392070.6:c.1371_1376delinsGTCCACC	ENSP00000375922.2:p.Tyr458SerfsTer?
ENST00000409551.7:c.1368_1373delinsGTCCACC	ENSP00000386750.3:p.Tyr457SerfsTer?
ENST00000464706.5:n.795_800delinsGTCCACC
NM_001127366.2:c.1368_1373delinsGTCCACC	NP_001120838.1:p.Tyr457SerfsTer?
NM_181457.3:c.1371_1376delinsGTCCACC	NP_852122.1:p.Tyr458SerfsTer18
NM_181458.3:c.1371_1376delinsGTCCACC	NP_852123.1:p.Tyr458SerfsTer?
NM_181459.3:c.1371_1376delinsGTCCACC	NP_852124.1:p.Tyr458SerfsTer?
NM_181460.3:c.1174-551_1174-546delinsGTCCACC	NP_852125.1:n.1174-551_1174-546delinsGTCCACC
NM_181461.3:c.1174-551_1174-546delinsGTCCACC	NP_852126.1:n.1174-551_1174-546delinsGTCCACC
XM_011511278.1:c.1515_1520delinsGTCCACC	XP_011509580.1:p.Tyr506SerfsTer?
XM_011511279.1:c.807_812delinsGTCCACC	XP_011509581.1:p.Tyr270SerfsTer?
NM_001127366.3:c.1368_1373delinsGTCCACC	NP_001120838.1:p.Tyr457SerfsTer?
NM_181457.4:c.1371_1376delinsGTCCACC	NP_852122.1:p.Tyr458SerfsTer18
NM_181458.4:c.1371_1376delinsGTCCACC MANE Select	NP_852123.1:p.Tyr458SerfsTer?
NM_181459.4:c.1371_1376delinsGTCCACC	NP_852124.1:p.Tyr458SerfsTer?
NM_181460.4:c.1174-551_1174-546delinsGTCCACC	NP_852125.1:n.1174-551_1174-546delinsGTCCACC
NM_181461.4:c.1174-551_1174-546delinsGTCCACC	NP_852126.1:n.1174-551_1174-546delinsGTCCACC