Canonical Allele Identifier: CA2754390221

Gene: PAX3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.222201818_222201819insTAATAAAAAAAAAAAAAAAAAAAAAA , CM000664.2:g.222201818_222201819insTAATAAAAAAAAAAAAAAAAAAAAAA	GRCh38
NC_000002.11:g.223066537_223066538insTAATAAAAAAAAAAAAAAAAAAAAAA , CM000664.1:g.223066537_223066538insTAATAAAAAAAAAAAAAAAAAAAAAA	GRCh37
NC_000002.10:g.222774781_222774782insTAATAAAAAAAAAAAAAAAAAAAAAA	NCBI36
NG_011632.1:g.102164_102165insTTTTTTTTTTTTTTTTTTTTTATTAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336840.11:c.1174-376_1174-375insTTTTTTTTTTTTTTTTTTTTTATTAT	ENSP00000338767.5:n.1174-376_1174-375insTTTTTTTTTTTTTTTTTTTTT...
ENST00000344493.9:c.1174-376_1174-375insTTTTTTTTTTTTTTTTTTTTTATTAT	ENSP00000342092.4:n.1174-376_1174-375insTTTTTTTTTTTTTTTTTTTTT...
ENST00000350526.9:c.*106_*107insTTTTTTTTTTTTTTTTTTTTTATTAT	ENSP00000343052.4:n.*106_*107insTTTTTTTTTTTTTTTTTTTTTATTAT
ENST00000392070.7:c.1420+126_1420+127insTTTTTTTTTTTTTTTTTTTTTATTAT MANE Select	ENSP00000375922.3:n.1420+126_1420+127insTTTTTTTTTTTTTTTTTTTTT...
ENST00000464706.6:n.858+126_858+127insTTTTTTTTTTTTTTTTTTTTTATTAT
ENST00000644699.1:n.746+126_746+127insTTTTTTTTTTTTTTTTTTTTTATTAT
ENST00000646154.1:n.1234+126_1234+127insTTTTTTTTTTTTTTTTTTTTTATTAT
ENST00000336840.10:c.1174-376_1174-375insTTTTTTTTTTTTTTTTTTTTTATTAT	ENSP00000338767.5:n.1174-376_1174-375insTTTTTTTTTTTTTTTTTTTTT...
ENST00000344493.8:c.1174-376_1174-375insTTTTTTTTTTTTTTTTTTTTTATTAT	ENSP00000342092.4:n.1174-376_1174-375insTTTTTTTTTTTTTTTTTTTTT...
ENST00000350526.8:c.*106_*107insTTTTTTTTTTTTTTTTTTTTTATTAT	ENSP00000343052.4:n.*106_*107insTTTTTTTTTTTTTTTTTTTTTATTAT
ENST00000392069.6:c.1420+126_1420+127insTTTTTTTTTTTTTTTTTTTTTATTAT	ENSP00000375921.2:n.1420+126_1420+127insTTTTTTTTTTTTTTTTTTTTT...
ENST00000392070.6:c.1420+126_1420+127insTTTTTTTTTTTTTTTTTTTTTATTAT	ENSP00000375922.2:n.1420+126_1420+127insTTTTTTTTTTTTTTTTTTTTT...
ENST00000409551.7:c.1417+126_1417+127insTTTTTTTTTTTTTTTTTTTTTATTAT	ENSP00000386750.3:n.1417+126_1417+127insTTTTTTTTTTTTTTTTTTTTT...
NM_001127366.2:c.1417+126_1417+127insTTTTTTTTTTTTTTTTTTTTTATTAT	NP_001120838.1:n.1417+126_1417+127insTTTTTTTTTTTTTTTTTTTTTATT...
NM_181457.3:c.*106_*107insTTTTTTTTTTTTTTTTTTTTTATTAT	NP_852122.1:n.*106_*107insTTTTTTTTTTTTTTTTTTTTTATTAT
NM_181458.3:c.1420+126_1420+127insTTTTTTTTTTTTTTTTTTTTTATTAT	NP_852123.1:n.1420+126_1420+127insTTTTTTTTTTTTTTTTTTTTTATTAT
NM_181459.3:c.1420+126_1420+127insTTTTTTTTTTTTTTTTTTTTTATTAT	NP_852124.1:n.1420+126_1420+127insTTTTTTTTTTTTTTTTTTTTTATTAT
NM_181460.3:c.1174-376_1174-375insTTTTTTTTTTTTTTTTTTTTTATTAT	NP_852125.1:n.1174-376_1174-375insTTTTTTTTTTTTTTTTTTTTTATTAT
NM_181461.3:c.1174-376_1174-375insTTTTTTTTTTTTTTTTTTTTTATTAT	NP_852126.1:n.1174-376_1174-375insTTTTTTTTTTTTTTTTTTTTTATTAT
XM_011511278.1:c.1564+126_1564+127insTTTTTTTTTTTTTTTTTTTTTATTAT	XP_011509580.1:n.1564+126_1564+127insTTTTTTTTTTTTTTTTTTTTTATT...
XM_011511279.1:c.856+126_856+127insTTTTTTTTTTTTTTTTTTTTTATTAT	XP_011509581.1:n.856+126_856+127insTTTTTTTTTTTTTTTTTTTTTATTAT...
NM_001127366.3:c.1417+126_1417+127insTTTTTTTTTTTTTTTTTTTTTATTAT	NP_001120838.1:n.1417+126_1417+127insTTTTTTTTTTTTTTTTTTTTTATT...
NM_181457.4:c.*106_*107insTTTTTTTTTTTTTTTTTTTTTATTAT	NP_852122.1:n.*106_*107insTTTTTTTTTTTTTTTTTTTTTATTAT
NM_181458.4:c.1420+126_1420+127insTTTTTTTTTTTTTTTTTTTTTATTAT MANE Select	NP_852123.1:n.1420+126_1420+127insTTTTTTTTTTTTTTTTTTTTTATTAT
NM_181459.4:c.1420+126_1420+127insTTTTTTTTTTTTTTTTTTTTTATTAT	NP_852124.1:n.1420+126_1420+127insTTTTTTTTTTTTTTTTTTTTTATTAT
NM_181460.4:c.1174-376_1174-375insTTTTTTTTTTTTTTTTTTTTTATTAT	NP_852125.1:n.1174-376_1174-375insTTTTTTTTTTTTTTTTTTTTTATTAT
NM_181461.4:c.1174-376_1174-375insTTTTTTTTTTTTTTTTTTTTTATTAT	NP_852126.1:n.1174-376_1174-375insTTTTTTTTTTTTTTTTTTTTTATTAT