Canonical Allele Identifier: CA2754390220

Gene: PAX3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.222201816_222201817del , CM000664.2:g.222201816_222201817del	GRCh38
NC_000002.11:g.223066535_223066536del , CM000664.1:g.223066535_223066536del	GRCh37
NC_000002.10:g.222774779_222774780del	NCBI36
NG_011632.1:g.102165_102166del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336840.11:c.1174-375_1174-374del	ENSP00000338767.5:n.1174-375_1174-374del
ENST00000344493.9:c.1174-375_1174-374del	ENSP00000342092.4:n.1174-375_1174-374del
ENST00000350526.9:c.*107_*108del	ENSP00000343052.4:n.*107_*108del
ENST00000392070.7:c.1420+127_1420+128del MANE Select	ENSP00000375922.3:n.1420+127_1420+128del
ENST00000464706.6:n.858+127_858+128del
ENST00000644699.1:n.746+127_746+128del
ENST00000646154.1:n.1234+127_1234+128del
ENST00000336840.10:c.1174-375_1174-374del	ENSP00000338767.5:n.1174-375_1174-374del
ENST00000344493.8:c.1174-375_1174-374del	ENSP00000342092.4:n.1174-375_1174-374del
ENST00000350526.8:c.*107_*108del	ENSP00000343052.4:n.*107_*108del
ENST00000392069.6:c.1420+127_1420+128del	ENSP00000375921.2:n.1420+127_1420+128del
ENST00000392070.6:c.1420+127_1420+128del	ENSP00000375922.2:n.1420+127_1420+128del
ENST00000409551.7:c.1417+127_1417+128del	ENSP00000386750.3:n.1417+127_1417+128del
NM_001127366.2:c.1417+127_1417+128del	NP_001120838.1:n.1417+127_1417+128del
NM_181457.3:c.*107_*108del	NP_852122.1:n.*107_*108del
NM_181458.3:c.1420+127_1420+128del	NP_852123.1:n.1420+127_1420+128del
NM_181459.3:c.1420+127_1420+128del	NP_852124.1:n.1420+127_1420+128del
NM_181460.3:c.1174-375_1174-374del	NP_852125.1:n.1174-375_1174-374del
NM_181461.3:c.1174-375_1174-374del	NP_852126.1:n.1174-375_1174-374del
XM_011511278.1:c.1564+127_1564+128del	XP_011509580.1:n.1564+127_1564+128del
XM_011511279.1:c.856+127_856+128del	XP_011509581.1:n.856+127_856+128del
NM_001127366.3:c.1417+127_1417+128del	NP_001120838.1:n.1417+127_1417+128del
NM_181457.4:c.*107_*108del	NP_852122.1:n.*107_*108del
NM_181458.4:c.1420+127_1420+128del MANE Select	NP_852123.1:n.1420+127_1420+128del
NM_181459.4:c.1420+127_1420+128del	NP_852124.1:n.1420+127_1420+128del
NM_181460.4:c.1174-375_1174-374del	NP_852125.1:n.1174-375_1174-374del
NM_181461.4:c.1174-375_1174-374del	NP_852126.1:n.1174-375_1174-374del