Canonical Allele Identifier: CA1330516081

Gene: PAX3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.222231835_222231836delinsTG , CM000664.2:g.222231835_222231836delinsTG	GRCh38
NC_000002.11:g.223096554_223096555delinsTG , CM000664.1:g.223096554_223096555delinsTG	GRCh37
NC_000002.10:g.222804798_222804799delinsTG	NCBI36
NG_011632.1:g.72146_72147delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336840.11:c.792+242_792+243delinsCA	ENSP00000338767.5:n.792+242_792+243delinsCA
ENST00000344493.9:c.792+242_792+243delinsCA	ENSP00000342092.4:n.792+242_792+243delinsCA
ENST00000350526.9:c.792+242_792+243delinsCA	ENSP00000343052.4:n.792+242_792+243delinsCA
ENST00000392070.7:c.792+242_792+243delinsCA MANE Select	ENSP00000375922.3:n.792+242_792+243delinsCA
ENST00000646154.1:n.606+242_606+243delinsCA
ENST00000336840.10:c.792+242_792+243delinsCA	ENSP00000338767.5:n.792+242_792+243delinsCA
ENST00000344493.8:c.792+242_792+243delinsCA	ENSP00000342092.4:n.792+242_792+243delinsCA
ENST00000350526.8:c.792+242_792+243delinsCA	ENSP00000343052.4:n.792+242_792+243delinsCA
ENST00000392069.6:c.792+242_792+243delinsCA	ENSP00000375921.2:n.792+242_792+243delinsCA
ENST00000392070.6:c.792+242_792+243delinsCA	ENSP00000375922.2:n.792+242_792+243delinsCA
ENST00000409551.7:c.789+242_789+243delinsCA	ENSP00000386750.3:n.789+242_789+243delinsCA
NM_001127366.2:c.789+242_789+243delinsCA	NP_001120838.1:n.789+242_789+243delinsCA
NM_181457.3:c.792+242_792+243delinsCA	NP_852122.1:n.792+242_792+243delinsCA
NM_181458.3:c.792+242_792+243delinsCA	NP_852123.1:n.792+242_792+243delinsCA
NM_181459.3:c.792+242_792+243delinsCA	NP_852124.1:n.792+242_792+243delinsCA
NM_181460.3:c.792+242_792+243delinsCA	NP_852125.1:n.792+242_792+243delinsCA
NM_181461.3:c.792+242_792+243delinsCA	NP_852126.1:n.792+242_792+243delinsCA
XM_011511278.1:c.936+242_936+243delinsCA	XP_011509580.1:n.936+242_936+243delinsCA
XM_011511279.1:c.228+242_228+243delinsCA	XP_011509581.1:n.228+242_228+243delinsCA
XR_923945.1:n.287+9865_287+9866delinsTG
XR_923946.1:n.288-177_288-176delinsTG
NM_001127366.3:c.789+242_789+243delinsCA	NP_001120838.1:n.789+242_789+243delinsCA
NM_181457.4:c.792+242_792+243delinsCA	NP_852122.1:n.792+242_792+243delinsCA
NM_181458.4:c.792+242_792+243delinsCA MANE Select	NP_852123.1:n.792+242_792+243delinsCA
NM_181459.4:c.792+242_792+243delinsCA	NP_852124.1:n.792+242_792+243delinsCA
NM_181460.4:c.792+242_792+243delinsCA	NP_852125.1:n.792+242_792+243delinsCA
NM_181461.4:c.792+242_792+243delinsCA	NP_852126.1:n.792+242_792+243delinsCA