Canonical Allele Identifier: CA2586971439

Gene: PAX3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.222221295del , CM000664.2:g.222221295del	GRCh38
NC_000002.11:g.223086014del , CM000664.1:g.223086014del	GRCh37
NC_000002.10:g.222794258del	NCBI36
NG_011632.1:g.82687del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336840.11:c.885del	ENSP00000338767.5:p.Thr297LeufsTer?
ENST00000344493.9:c.885del	ENSP00000342092.4:p.Thr297LeufsTer?
ENST00000350526.9:c.885del	ENSP00000343052.4:p.Thr297LeufsTer?
ENST00000392070.7:c.885del MANE Select	ENSP00000375922.3:p.Thr297LeufsTer?
ENST00000464706.6:n.323del
ENST00000644699.1:n.211del
ENST00000644937.1:n.157del
ENST00000646154.1:n.699del
ENST00000336840.10:c.885del	ENSP00000338767.5:p.Thr297LeufsTer?
ENST00000344493.8:c.885del	ENSP00000342092.4:p.Thr297LeufsTer?
ENST00000350526.8:c.885del	ENSP00000343052.4:p.Thr297LeufsTer?
ENST00000392069.6:c.885del	ENSP00000375921.2:p.Thr297LeufsTer?
ENST00000392070.6:c.885del	ENSP00000375922.2:p.Thr297LeufsTer?
ENST00000409551.7:c.882del	ENSP00000386750.3:p.Thr296LeufsTer?
ENST00000464706.5:n.309del
ENST00000555548.1:n.116del
NM_001127366.2:c.882del	NP_001120838.1:p.Thr296LeufsTer?
NM_181457.3:c.885del	NP_852122.1:p.Thr297LeufsTer?
NM_181458.3:c.885del	NP_852123.1:p.Thr297LeufsTer?
NM_181459.3:c.885del	NP_852124.1:p.Thr297LeufsTer?
NM_181460.3:c.885del	NP_852125.1:p.Thr297LeufsTer?
NM_181461.3:c.885del	NP_852126.1:p.Thr297LeufsTer?
XM_011511278.1:c.1029del	XP_011509580.1:p.Thr345LeufsTer?
XM_011511279.1:c.321del	XP_011509581.1:p.Thr109LeufsTer?
NM_001127366.3:c.882del	NP_001120838.1:p.Thr296LeufsTer?
NM_181457.4:c.885del	NP_852122.1:p.Thr297LeufsTer?
NM_181458.4:c.885del MANE Select	NP_852123.1:p.Thr297LeufsTer?
NM_181459.4:c.885del	NP_852124.1:p.Thr297LeufsTer?
NM_181460.4:c.885del	NP_852125.1:p.Thr297LeufsTer?
NM_181461.4:c.885del	NP_852126.1:p.Thr297LeufsTer?