Canonical Allele Identifier: CA2580616712

Gene: PAX3

Linked Data

• ClinVar Variation Id: 1185059
• ClinVar RCV Id: RCV001822881
• dbSNP Id: rs2106200388

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.222295611_222295612del , CM000664.2:g.222295611_222295612del	GRCh38
NC_000002.11:g.223160330_223160331del , CM000664.1:g.223160330_223160331del	GRCh37
NC_000002.10:g.222868574_222868575del	NCBI36
NG_011632.1:g.8375_8376del
NG_021186.1:g.2465_2466del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258387.6:c.372_373del	ENSP00000258387.5:p.Asn125ProfsTer19
ENST00000336840.11:c.372_373del	ENSP00000338767.5:p.Asn125ProfsTer19
ENST00000344493.9:c.372_373del	ENSP00000342092.4:p.Asn125ProfsTer19
ENST00000350526.9:c.372_373del	ENSP00000343052.4:p.Asn125ProfsTer19
ENST00000392070.7:c.372_373del MANE Select	ENSP00000375922.3:p.Asn125ProfsTer19
ENST00000647467.1:n.753_754del
ENST00000258387.5:c.372_373del	ENSP00000258387.5:p.Asn125ProfsTer19
ENST00000336840.10:c.372_373del	ENSP00000338767.5:p.Asn125ProfsTer19
ENST00000344493.8:c.372_373del	ENSP00000342092.4:p.Asn125ProfsTer19
ENST00000350526.8:c.372_373del	ENSP00000343052.4:p.Asn125ProfsTer19
ENST00000392069.6:c.372_373del	ENSP00000375921.2:p.Asn125ProfsTer19
ENST00000392070.6:c.372_373del	ENSP00000375922.2:p.Asn125ProfsTer19
ENST00000409551.7:c.369_370del	ENSP00000386750.3:p.Asn124ProfsTer19
ENST00000409828.7:c.372_373del	ENSP00000386817.3:p.Asn125ProfsTer19
NM_000438.5:c.372_373del	NP_000429.2:p.Asn125ProfsTer19
NM_001127366.2:c.369_370del	NP_001120838.1:p.Asn124ProfsTer19
NM_013942.4:c.372_373del	NP_039230.1:p.Asn125ProfsTer19
NM_181457.3:c.372_373del	NP_852122.1:p.Asn125ProfsTer19
NM_181458.3:c.372_373del	NP_852123.1:p.Asn125ProfsTer19
NM_181459.3:c.372_373del	NP_852124.1:p.Asn125ProfsTer19
NM_181460.3:c.372_373del	NP_852125.1:p.Asn125ProfsTer19
NM_181461.3:c.372_373del	NP_852126.1:p.Asn125ProfsTer19
XM_011511278.1:c.516_517del	XP_011509580.1:p.Asn173ProfsTer19
XM_011511280.1:c.516_517del	XP_011509582.1:p.Asn173ProfsTer19
XM_011511281.1:c.516_517del	XP_011509583.1:p.Asn173ProfsTer19
NM_000438.6:c.372_373del	NP_000429.2:p.Asn125ProfsTer19
NM_001127366.3:c.369_370del	NP_001120838.1:p.Asn124ProfsTer19
NM_013942.5:c.372_373del	NP_039230.1:p.Asn125ProfsTer19
NM_181457.4:c.372_373del	NP_852122.1:p.Asn125ProfsTer19
NM_181458.4:c.372_373del MANE Select	NP_852123.1:p.Asn125ProfsTer19
NM_181459.4:c.372_373del	NP_852124.1:p.Asn125ProfsTer19
NM_181460.4:c.372_373del	NP_852125.1:p.Asn125ProfsTer19
NM_181461.4:c.372_373del	NP_852126.1:p.Asn125ProfsTer19