Canonical Allele Identifier: CA1330502411

Gene: PAX3

Linked Data

• dbSNP Id: rs1691301892
• gnomAD v4: 2-222201792-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.222201793dup , CM000664.2:g.222201793dup	GRCh38
NC_000002.11:g.223066512dup , CM000664.1:g.223066512dup	GRCh37
NC_000002.10:g.222774756dup	NCBI36
NG_011632.1:g.102189dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336840.11:c.1174-351dup	ENSP00000338767.5:n.1174-351dup
ENST00000344493.9:c.1174-351dup	ENSP00000342092.4:n.1174-351dup
ENST00000350526.9:c.*131dup	ENSP00000343052.4:n.*131dup
ENST00000392070.7:c.1420+151dup MANE Select	ENSP00000375922.3:n.1420+151dup
ENST00000464706.6:n.858+151dup
ENST00000644699.1:n.746+151dup
ENST00000646154.1:n.1234+151dup
ENST00000336840.10:c.1174-351dup	ENSP00000338767.5:n.1174-351dup
ENST00000344493.8:c.1174-351dup	ENSP00000342092.4:n.1174-351dup
ENST00000350526.8:c.*131dup	ENSP00000343052.4:n.*131dup
ENST00000392069.6:c.1420+151dup	ENSP00000375921.2:n.1420+151dup
ENST00000392070.6:c.1420+151dup	ENSP00000375922.2:n.1420+151dup
ENST00000409551.7:c.1417+151dup	ENSP00000386750.3:n.1417+151dup
NM_001127366.2:c.1417+151dup	NP_001120838.1:n.1417+151dup
NM_181457.3:c.*131dup	NP_852122.1:n.*131dup
NM_181458.3:c.1420+151dup	NP_852123.1:n.1420+151dup
NM_181459.3:c.1420+151dup	NP_852124.1:n.1420+151dup
NM_181460.3:c.1174-351dup	NP_852125.1:n.1174-351dup
NM_181461.3:c.1174-351dup	NP_852126.1:n.1174-351dup
XM_011511278.1:c.1564+151dup	XP_011509580.1:n.1564+151dup
XM_011511279.1:c.856+151dup	XP_011509581.1:n.856+151dup
NM_001127366.3:c.1417+151dup	NP_001120838.1:n.1417+151dup
NM_181457.4:c.*131dup	NP_852122.1:n.*131dup
NM_181458.4:c.1420+151dup MANE Select	NP_852123.1:n.1420+151dup
NM_181459.4:c.1420+151dup	NP_852124.1:n.1420+151dup
NM_181460.4:c.1174-351dup	NP_852125.1:n.1174-351dup
NM_181461.4:c.1174-351dup	NP_852126.1:n.1174-351dup