Canonical Allele Identifier: CA1330502880

Gene: PAX3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.222202231_222202237delinsGAGATCC , CM000664.2:g.222202231_222202237delinsGAGATCC	GRCh38
NC_000002.11:g.223066950_223066956delinsGAGATCC , CM000664.1:g.223066950_223066956delinsGAGATCC	GRCh37
NC_000002.10:g.222775194_222775200delinsGAGATCC	NCBI36
NG_011632.1:g.101745_101751delinsGGATCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336840.11:c.1174-795_1174-789delinsGGATCTC	ENSP00000338767.5:n.1174-795_1174-789delinsGGATCTC
ENST00000344493.9:c.1174-795_1174-789delinsGGATCTC	ENSP00000342092.4:n.1174-795_1174-789delinsGGATCTC
ENST00000350526.9:c.1174-47_1174-41delinsGGATCTC	ENSP00000343052.4:n.1174-47_1174-41delinsGGATCTC
ENST00000392070.7:c.1174-47_1174-41delinsGGATCTC MANE Select	ENSP00000375922.3:n.1174-47_1174-41delinsGGATCTC
ENST00000464706.6:n.612-47_612-41delinsGGATCTC
ENST00000644699.1:n.500-47_500-41delinsGGATCTC
ENST00000646154.1:n.988-47_988-41delinsGGATCTC
ENST00000336840.10:c.1174-795_1174-789delinsGGATCTC	ENSP00000338767.5:n.1174-795_1174-789delinsGGATCTC
ENST00000344493.8:c.1174-795_1174-789delinsGGATCTC	ENSP00000342092.4:n.1174-795_1174-789delinsGGATCTC
ENST00000350526.8:c.1174-47_1174-41delinsGGATCTC	ENSP00000343052.4:n.1174-47_1174-41delinsGGATCTC
ENST00000392069.6:c.1174-47_1174-41delinsGGATCTC	ENSP00000375921.2:n.1174-47_1174-41delinsGGATCTC
ENST00000392070.6:c.1174-47_1174-41delinsGGATCTC	ENSP00000375922.2:n.1174-47_1174-41delinsGGATCTC
ENST00000409551.7:c.1171-47_1171-41delinsGGATCTC	ENSP00000386750.3:n.1171-47_1171-41delinsGGATCTC
ENST00000464706.5:n.598-47_598-41delinsGGATCTC
ENST00000555548.1:n.405-47_405-41delinsGGATCTC
NM_001127366.2:c.1171-47_1171-41delinsGGATCTC	NP_001120838.1:n.1171-47_1171-41delinsGGATCTC
NM_181457.3:c.1174-47_1174-41delinsGGATCTC	NP_852122.1:n.1174-47_1174-41delinsGGATCTC
NM_181458.3:c.1174-47_1174-41delinsGGATCTC	NP_852123.1:n.1174-47_1174-41delinsGGATCTC
NM_181459.3:c.1174-47_1174-41delinsGGATCTC	NP_852124.1:n.1174-47_1174-41delinsGGATCTC
NM_181460.3:c.1174-795_1174-789delinsGGATCTC	NP_852125.1:n.1174-795_1174-789delinsGGATCTC
NM_181461.3:c.1174-795_1174-789delinsGGATCTC	NP_852126.1:n.1174-795_1174-789delinsGGATCTC
XM_011511278.1:c.1318-47_1318-41delinsGGATCTC	XP_011509580.1:n.1318-47_1318-41delinsGGATCTC
XM_011511279.1:c.610-47_610-41delinsGGATCTC	XP_011509581.1:n.610-47_610-41delinsGGATCTC
NM_001127366.3:c.1171-47_1171-41delinsGGATCTC	NP_001120838.1:n.1171-47_1171-41delinsGGATCTC
NM_181457.4:c.1174-47_1174-41delinsGGATCTC	NP_852122.1:n.1174-47_1174-41delinsGGATCTC
NM_181458.4:c.1174-47_1174-41delinsGGATCTC MANE Select	NP_852123.1:n.1174-47_1174-41delinsGGATCTC
NM_181459.4:c.1174-47_1174-41delinsGGATCTC	NP_852124.1:n.1174-47_1174-41delinsGGATCTC
NM_181460.4:c.1174-795_1174-789delinsGGATCTC	NP_852125.1:n.1174-795_1174-789delinsGGATCTC
NM_181461.4:c.1174-795_1174-789delinsGGATCTC	NP_852126.1:n.1174-795_1174-789delinsGGATCTC