Canonical Allele Identifier: CA1330502854

Gene: PAX3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.222202192_222202194delinsTAA , CM000664.2:g.222202192_222202194delinsTAA	GRCh38
NC_000002.11:g.223066911_223066913delinsTAA , CM000664.1:g.223066911_223066913delinsTAA	GRCh37
NC_000002.10:g.222775155_222775157delinsTAA	NCBI36
NG_011632.1:g.101788_101790delinsTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336840.11:c.1174-752_1174-750delinsTTA	ENSP00000338767.5:n.1174-752_1174-750delinsTTA
ENST00000344493.9:c.1174-752_1174-750delinsTTA	ENSP00000342092.4:n.1174-752_1174-750delinsTTA
ENST00000350526.9:c.1174-4_1174-2delinsTTA	ENSP00000343052.4:n.1174-4_1174-2delinsTTA
ENST00000392070.7:c.1174-4_1174-2delinsTTA MANE Select	ENSP00000375922.3:n.1174-4_1174-2delinsTTA
ENST00000464706.6:n.612-4_612-2delinsTTA
ENST00000644699.1:n.500-4_500-2delinsTTA
ENST00000646154.1:n.988-4_988-2delinsTTA
ENST00000336840.10:c.1174-752_1174-750delinsTTA	ENSP00000338767.5:n.1174-752_1174-750delinsTTA
ENST00000344493.8:c.1174-752_1174-750delinsTTA	ENSP00000342092.4:n.1174-752_1174-750delinsTTA
ENST00000350526.8:c.1174-4_1174-2delinsTTA	ENSP00000343052.4:n.1174-4_1174-2delinsTTA
ENST00000392069.6:c.1174-4_1174-2delinsTTA	ENSP00000375921.2:n.1174-4_1174-2delinsTTA
ENST00000392070.6:c.1174-4_1174-2delinsTTA	ENSP00000375922.2:n.1174-4_1174-2delinsTTA
ENST00000409551.7:c.1171-4_1171-2delinsTTA	ENSP00000386750.3:n.1171-4_1171-2delinsTTA
ENST00000464706.5:n.598-4_598-2delinsTTA
ENST00000555548.1:n.405-4_405-2delinsTTA
NM_001127366.2:c.1171-4_1171-2delinsTTA	NP_001120838.1:n.1171-4_1171-2delinsTTA
NM_181457.3:c.1174-4_1174-2delinsTTA	NP_852122.1:n.1174-4_1174-2delinsTTA
NM_181458.3:c.1174-4_1174-2delinsTTA	NP_852123.1:n.1174-4_1174-2delinsTTA
NM_181459.3:c.1174-4_1174-2delinsTTA	NP_852124.1:n.1174-4_1174-2delinsTTA
NM_181460.3:c.1174-752_1174-750delinsTTA	NP_852125.1:n.1174-752_1174-750delinsTTA
NM_181461.3:c.1174-752_1174-750delinsTTA	NP_852126.1:n.1174-752_1174-750delinsTTA
XM_011511278.1:c.1318-4_1318-2delinsTTA	XP_011509580.1:n.1318-4_1318-2delinsTTA
XM_011511279.1:c.610-4_610-2delinsTTA	XP_011509581.1:n.610-4_610-2delinsTTA
NM_001127366.3:c.1171-4_1171-2delinsTTA	NP_001120838.1:n.1171-4_1171-2delinsTTA
NM_181457.4:c.1174-4_1174-2delinsTTA	NP_852122.1:n.1174-4_1174-2delinsTTA
NM_181458.4:c.1174-4_1174-2delinsTTA MANE Select	NP_852123.1:n.1174-4_1174-2delinsTTA
NM_181459.4:c.1174-4_1174-2delinsTTA	NP_852124.1:n.1174-4_1174-2delinsTTA
NM_181460.4:c.1174-752_1174-750delinsTTA	NP_852125.1:n.1174-752_1174-750delinsTTA
NM_181461.4:c.1174-752_1174-750delinsTTA	NP_852126.1:n.1174-752_1174-750delinsTTA