Canonical Allele Identifier: CA658822348

Gene: PAX3

Linked Data

• ClinVar Variation Id: 547753
• ClinVar RCV Id: RCV000660224
• dbSNP Id: rs1553568831
• MyVariant Identifiers: chr2:g.223066708_223066711dup (hg19) ; chr2:g.222201989_222201992dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.222201989_222201992dup , CM000664.2:g.222201989_222201992dup	GRCh38
NC_000002.11:g.223066708_223066711dup , CM000664.1:g.223066708_223066711dup	GRCh37
NC_000002.10:g.222774952_222774955dup	NCBI36
NG_011632.1:g.101990_101993dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336840.11:c.1174-550_1174-547dup	ENSP00000338767.5:n.1174-550_1174-547dup
ENST00000344493.9:c.1174-550_1174-547dup	ENSP00000342092.4:n.1174-550_1174-547dup
ENST00000350526.9:c.1372_1375dup	ENSP00000343052.4:p.Ser459IlefsTer18
ENST00000392070.7:c.1372_1375dup MANE Select	ENSP00000375922.3:p.Ser459IlefsTer?
ENST00000464706.6:n.810_813dup
ENST00000644699.1:n.698_701dup
ENST00000646154.1:n.1186_1189dup
ENST00000336840.10:c.1174-550_1174-547dup	ENSP00000338767.5:n.1174-550_1174-547dup
ENST00000344493.8:c.1174-550_1174-547dup	ENSP00000342092.4:n.1174-550_1174-547dup
ENST00000350526.8:c.1372_1375dup	ENSP00000343052.4:p.Ser459IlefsTer18
ENST00000392069.6:c.1372_1375dup	ENSP00000375921.2:p.Ser459IlefsTer?
ENST00000392070.6:c.1372_1375dup	ENSP00000375922.2:p.Ser459IlefsTer?
ENST00000409551.7:c.1369_1372dup	ENSP00000386750.3:p.Ser458IlefsTer?
ENST00000464706.5:n.796_799dup
NM_001127366.2:c.1369_1372dup	NP_001120838.1:p.Ser458IlefsTer?
NM_181457.3:c.1372_1375dup	NP_852122.1:p.Ser459IlefsTer18
NM_181458.3:c.1372_1375dup	NP_852123.1:p.Ser459IlefsTer?
NM_181459.3:c.1372_1375dup	NP_852124.1:p.Ser459IlefsTer?
NM_181460.3:c.1174-550_1174-547dup	NP_852125.1:n.1174-550_1174-547dup
NM_181461.3:c.1174-550_1174-547dup	NP_852126.1:n.1174-550_1174-547dup
XM_011511278.1:c.1516_1519dup	XP_011509580.1:p.Ser507IlefsTer?
XM_011511279.1:c.808_811dup	XP_011509581.1:p.Ser271IlefsTer?
NM_001127366.3:c.1369_1372dup	NP_001120838.1:p.Ser458IlefsTer?
NM_181457.4:c.1372_1375dup	NP_852122.1:p.Ser459IlefsTer18
NM_181458.4:c.1372_1375dup MANE Select	NP_852123.1:p.Ser459IlefsTer?
NM_181459.4:c.1372_1375dup	NP_852124.1:p.Ser459IlefsTer?
NM_181460.4:c.1174-550_1174-547dup	NP_852125.1:n.1174-550_1174-547dup
NM_181461.4:c.1174-550_1174-547dup	NP_852126.1:n.1174-550_1174-547dup