Canonical Allele Identifier: CA2754390218

Gene: PAX3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.222201788_222201798del , CM000664.2:g.222201788_222201798del	GRCh38
NC_000002.11:g.223066507_223066517del , CM000664.1:g.223066507_223066517del	GRCh37
NC_000002.10:g.222774751_222774761del	NCBI36
NG_011632.1:g.102184_102194del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336840.11:c.1174-356_1174-346del	ENSP00000338767.5:n.1174-356_1174-346del
ENST00000344493.9:c.1174-356_1174-346del	ENSP00000342092.4:n.1174-356_1174-346del
ENST00000350526.9:c.*126_*136del	ENSP00000343052.4:n.*126_*136del
ENST00000392070.7:c.1420+146_1420+156del MANE Select	ENSP00000375922.3:n.1420+146_1420+156del
ENST00000464706.6:n.858+146_858+156del
ENST00000644699.1:n.746+146_746+156del
ENST00000646154.1:n.1234+146_1234+156del
ENST00000336840.10:c.1174-356_1174-346del	ENSP00000338767.5:n.1174-356_1174-346del
ENST00000344493.8:c.1174-356_1174-346del	ENSP00000342092.4:n.1174-356_1174-346del
ENST00000350526.8:c.*126_*136del	ENSP00000343052.4:n.*126_*136del
ENST00000392069.6:c.1420+146_1420+156del	ENSP00000375921.2:n.1420+146_1420+156del
ENST00000392070.6:c.1420+146_1420+156del	ENSP00000375922.2:n.1420+146_1420+156del
ENST00000409551.7:c.1417+146_1417+156del	ENSP00000386750.3:n.1417+146_1417+156del
NM_001127366.2:c.1417+146_1417+156del	NP_001120838.1:n.1417+146_1417+156del
NM_181457.3:c.*126_*136del	NP_852122.1:n.*126_*136del
NM_181458.3:c.1420+146_1420+156del	NP_852123.1:n.1420+146_1420+156del
NM_181459.3:c.1420+146_1420+156del	NP_852124.1:n.1420+146_1420+156del
NM_181460.3:c.1174-356_1174-346del	NP_852125.1:n.1174-356_1174-346del
NM_181461.3:c.1174-356_1174-346del	NP_852126.1:n.1174-356_1174-346del
XM_011511278.1:c.1564+146_1564+156del	XP_011509580.1:n.1564+146_1564+156del
XM_011511279.1:c.856+146_856+156del	XP_011509581.1:n.856+146_856+156del
NM_001127366.3:c.1417+146_1417+156del	NP_001120838.1:n.1417+146_1417+156del
NM_181457.4:c.*126_*136del	NP_852122.1:n.*126_*136del
NM_181458.4:c.1420+146_1420+156del MANE Select	NP_852123.1:n.1420+146_1420+156del
NM_181459.4:c.1420+146_1420+156del	NP_852124.1:n.1420+146_1420+156del
NM_181460.4:c.1174-356_1174-346del	NP_852125.1:n.1174-356_1174-346del
NM_181461.4:c.1174-356_1174-346del	NP_852126.1:n.1174-356_1174-346del