Canonical Allele Identifier: CA2739279373

Gene: PAX3

Linked Data

• ClinVar Variation Id: 2809987
• ClinVar RCV Id: RCV003680232

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.222202022dup , CM000664.2:g.222202022dup	GRCh38
NC_000002.11:g.223066741dup , CM000664.1:g.223066741dup	GRCh37
NC_000002.10:g.222774985dup	NCBI36
NG_011632.1:g.101960dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336840.11:c.1174-580dup	ENSP00000338767.5:n.1174-580dup
ENST00000344493.9:c.1174-580dup	ENSP00000342092.4:n.1174-580dup
ENST00000350526.9:c.1342dup	ENSP00000343052.4:p.Tyr448LeufsTer7
ENST00000392070.7:c.1342dup MANE Select	ENSP00000375922.3:p.Tyr448LeufsTer7
ENST00000464706.6:n.780dup
ENST00000644699.1:n.668dup
ENST00000646154.1:n.1156dup
ENST00000336840.10:c.1174-580dup	ENSP00000338767.5:n.1174-580dup
ENST00000344493.8:c.1174-580dup	ENSP00000342092.4:n.1174-580dup
ENST00000350526.8:c.1342dup	ENSP00000343052.4:p.Tyr448LeufsTer7
ENST00000392069.6:c.1342dup	ENSP00000375921.2:p.Tyr448LeufsTer7
ENST00000392070.6:c.1342dup	ENSP00000375922.2:p.Tyr448LeufsTer7
ENST00000409551.7:c.1339dup	ENSP00000386750.3:p.Tyr447LeufsTer7
ENST00000464706.5:n.766dup
NM_001127366.2:c.1339dup	NP_001120838.1:p.Tyr447LeufsTer7
NM_181457.3:c.1342dup	NP_852122.1:p.Tyr448LeufsTer7
NM_181458.3:c.1342dup	NP_852123.1:p.Tyr448LeufsTer7
NM_181459.3:c.1342dup	NP_852124.1:p.Tyr448LeufsTer7
NM_181460.3:c.1174-580dup	NP_852125.1:n.1174-580dup
NM_181461.3:c.1174-580dup	NP_852126.1:n.1174-580dup
XM_011511278.1:c.1486dup	XP_011509580.1:p.Tyr496LeufsTer7
XM_011511279.1:c.778dup	XP_011509581.1:p.Tyr260LeufsTer7
NM_001127366.3:c.1339dup	NP_001120838.1:p.Tyr447LeufsTer7
NM_181457.4:c.1342dup	NP_852122.1:p.Tyr448LeufsTer7
NM_181458.4:c.1342dup MANE Select	NP_852123.1:p.Tyr448LeufsTer7
NM_181459.4:c.1342dup	NP_852124.1:p.Tyr448LeufsTer7
NM_181460.4:c.1174-580dup	NP_852125.1:n.1174-580dup
NM_181461.4:c.1174-580dup	NP_852126.1:n.1174-580dup