Canonical Allele Identifier: CA1330502865

Gene: PAX3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.222202200_222202201delinsCA , CM000664.2:g.222202200_222202201delinsCA	GRCh38
NC_000002.11:g.223066919_223066920delinsCA , CM000664.1:g.223066919_223066920delinsCA	GRCh37
NC_000002.10:g.222775163_222775164delinsCA	NCBI36
NG_011632.1:g.101781_101782delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336840.11:c.1174-759_1174-758delinsTG	ENSP00000338767.5:n.1174-759_1174-758delinsTG
ENST00000344493.9:c.1174-759_1174-758delinsTG	ENSP00000342092.4:n.1174-759_1174-758delinsTG
ENST00000350526.9:c.1174-11_1174-10delinsTG	ENSP00000343052.4:n.1174-11_1174-10delinsTG
ENST00000392070.7:c.1174-11_1174-10delinsTG MANE Select	ENSP00000375922.3:n.1174-11_1174-10delinsTG
ENST00000464706.6:n.612-11_612-10delinsTG
ENST00000644699.1:n.500-11_500-10delinsTG
ENST00000646154.1:n.988-11_988-10delinsTG
ENST00000336840.10:c.1174-759_1174-758delinsTG	ENSP00000338767.5:n.1174-759_1174-758delinsTG
ENST00000344493.8:c.1174-759_1174-758delinsTG	ENSP00000342092.4:n.1174-759_1174-758delinsTG
ENST00000350526.8:c.1174-11_1174-10delinsTG	ENSP00000343052.4:n.1174-11_1174-10delinsTG
ENST00000392069.6:c.1174-11_1174-10delinsTG	ENSP00000375921.2:n.1174-11_1174-10delinsTG
ENST00000392070.6:c.1174-11_1174-10delinsTG	ENSP00000375922.2:n.1174-11_1174-10delinsTG
ENST00000409551.7:c.1171-11_1171-10delinsTG	ENSP00000386750.3:n.1171-11_1171-10delinsTG
ENST00000464706.5:n.598-11_598-10delinsTG
ENST00000555548.1:n.405-11_405-10delinsTG
NM_001127366.2:c.1171-11_1171-10delinsTG	NP_001120838.1:n.1171-11_1171-10delinsTG
NM_181457.3:c.1174-11_1174-10delinsTG	NP_852122.1:n.1174-11_1174-10delinsTG
NM_181458.3:c.1174-11_1174-10delinsTG	NP_852123.1:n.1174-11_1174-10delinsTG
NM_181459.3:c.1174-11_1174-10delinsTG	NP_852124.1:n.1174-11_1174-10delinsTG
NM_181460.3:c.1174-759_1174-758delinsTG	NP_852125.1:n.1174-759_1174-758delinsTG
NM_181461.3:c.1174-759_1174-758delinsTG	NP_852126.1:n.1174-759_1174-758delinsTG
XM_011511278.1:c.1318-11_1318-10delinsTG	XP_011509580.1:n.1318-11_1318-10delinsTG
XM_011511279.1:c.610-11_610-10delinsTG	XP_011509581.1:n.610-11_610-10delinsTG
NM_001127366.3:c.1171-11_1171-10delinsTG	NP_001120838.1:n.1171-11_1171-10delinsTG
NM_181457.4:c.1174-11_1174-10delinsTG	NP_852122.1:n.1174-11_1174-10delinsTG
NM_181458.4:c.1174-11_1174-10delinsTG MANE Select	NP_852123.1:n.1174-11_1174-10delinsTG
NM_181459.4:c.1174-11_1174-10delinsTG	NP_852124.1:n.1174-11_1174-10delinsTG
NM_181460.4:c.1174-759_1174-758delinsTG	NP_852125.1:n.1174-759_1174-758delinsTG
NM_181461.4:c.1174-759_1174-758delinsTG	NP_852126.1:n.1174-759_1174-758delinsTG