Canonical Allele Identifier: CA2663322135

Gene: PAX3

Linked Data

• gnomAD v4: 2-222201817-C-CAAAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.222201827_222201832dup , CM000664.2:g.222201827_222201832dup	GRCh38
NC_000002.11:g.223066546_223066551dup , CM000664.1:g.223066546_223066551dup	GRCh37
NC_000002.10:g.222774790_222774795dup	NCBI36
NG_011632.1:g.102159_102164dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336840.11:c.1174-381_1174-376dup	ENSP00000338767.5:n.1174-381_1174-376dup
ENST00000344493.9:c.1174-381_1174-376dup	ENSP00000342092.4:n.1174-381_1174-376dup
ENST00000350526.9:c.*101_*106dup	ENSP00000343052.4:n.*101_*106dup
ENST00000392070.7:c.1420+121_1420+126dup MANE Select	ENSP00000375922.3:n.1420+121_1420+126dup
ENST00000464706.6:n.858+121_858+126dup
ENST00000644699.1:n.746+121_746+126dup
ENST00000646154.1:n.1234+121_1234+126dup
ENST00000336840.10:c.1174-381_1174-376dup	ENSP00000338767.5:n.1174-381_1174-376dup
ENST00000344493.8:c.1174-381_1174-376dup	ENSP00000342092.4:n.1174-381_1174-376dup
ENST00000350526.8:c.*101_*106dup	ENSP00000343052.4:n.*101_*106dup
ENST00000392069.6:c.1420+121_1420+126dup	ENSP00000375921.2:n.1420+121_1420+126dup
ENST00000392070.6:c.1420+121_1420+126dup	ENSP00000375922.2:n.1420+121_1420+126dup
ENST00000409551.7:c.1417+121_1417+126dup	ENSP00000386750.3:n.1417+121_1417+126dup
NM_001127366.2:c.1417+121_1417+126dup	NP_001120838.1:n.1417+121_1417+126dup
NM_181457.3:c.*101_*106dup	NP_852122.1:n.*101_*106dup
NM_181458.3:c.1420+121_1420+126dup	NP_852123.1:n.1420+121_1420+126dup
NM_181459.3:c.1420+121_1420+126dup	NP_852124.1:n.1420+121_1420+126dup
NM_181460.3:c.1174-381_1174-376dup	NP_852125.1:n.1174-381_1174-376dup
NM_181461.3:c.1174-381_1174-376dup	NP_852126.1:n.1174-381_1174-376dup
XM_011511278.1:c.1564+121_1564+126dup	XP_011509580.1:n.1564+121_1564+126dup
XM_011511279.1:c.856+121_856+126dup	XP_011509581.1:n.856+121_856+126dup
NM_001127366.3:c.1417+121_1417+126dup	NP_001120838.1:n.1417+121_1417+126dup
NM_181457.4:c.*101_*106dup	NP_852122.1:n.*101_*106dup
NM_181458.4:c.1420+121_1420+126dup MANE Select	NP_852123.1:n.1420+121_1420+126dup
NM_181459.4:c.1420+121_1420+126dup	NP_852124.1:n.1420+121_1420+126dup
NM_181460.4:c.1174-381_1174-376dup	NP_852125.1:n.1174-381_1174-376dup
NM_181461.4:c.1174-381_1174-376dup	NP_852126.1:n.1174-381_1174-376dup