Canonical Allele Identifier: CA1330502519

Gene: PAX3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.222201887_222201888delinsGA , CM000664.2:g.222201887_222201888delinsGA	GRCh38
NC_000002.11:g.223066606_223066607delinsGA , CM000664.1:g.223066606_223066607delinsGA	GRCh37
NC_000002.10:g.222774850_222774851delinsGA	NCBI36
NG_011632.1:g.102094_102095delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336840.11:c.1174-446_1174-445delinsTC	ENSP00000338767.5:n.1174-446_1174-445delinsTC
ENST00000344493.9:c.1174-446_1174-445delinsTC	ENSP00000342092.4:n.1174-446_1174-445delinsTC
ENST00000350526.9:c.*36_*37delinsTC	ENSP00000343052.4:n.*36_*37delinsTC
ENST00000392070.7:c.1420+56_1420+57delinsTC MANE Select	ENSP00000375922.3:n.1420+56_1420+57delinsTC
ENST00000464706.6:n.858+56_858+57delinsTC
ENST00000644699.1:n.746+56_746+57delinsTC
ENST00000646154.1:n.1234+56_1234+57delinsTC
ENST00000336840.10:c.1174-446_1174-445delinsTC	ENSP00000338767.5:n.1174-446_1174-445delinsTC
ENST00000344493.8:c.1174-446_1174-445delinsTC	ENSP00000342092.4:n.1174-446_1174-445delinsTC
ENST00000350526.8:c.*36_*37delinsTC	ENSP00000343052.4:n.*36_*37delinsTC
ENST00000392069.6:c.1420+56_1420+57delinsTC	ENSP00000375921.2:n.1420+56_1420+57delinsTC
ENST00000392070.6:c.1420+56_1420+57delinsTC	ENSP00000375922.2:n.1420+56_1420+57delinsTC
ENST00000409551.7:c.1417+56_1417+57delinsTC	ENSP00000386750.3:n.1417+56_1417+57delinsTC
NM_001127366.2:c.1417+56_1417+57delinsTC	NP_001120838.1:n.1417+56_1417+57delinsTC
NM_181457.3:c.*36_*37delinsTC	NP_852122.1:n.*36_*37delinsTC
NM_181458.3:c.1420+56_1420+57delinsTC	NP_852123.1:n.1420+56_1420+57delinsTC
NM_181459.3:c.1420+56_1420+57delinsTC	NP_852124.1:n.1420+56_1420+57delinsTC
NM_181460.3:c.1174-446_1174-445delinsTC	NP_852125.1:n.1174-446_1174-445delinsTC
NM_181461.3:c.1174-446_1174-445delinsTC	NP_852126.1:n.1174-446_1174-445delinsTC
XM_011511278.1:c.1564+56_1564+57delinsTC	XP_011509580.1:n.1564+56_1564+57delinsTC
XM_011511279.1:c.856+56_856+57delinsTC	XP_011509581.1:n.856+56_856+57delinsTC
NM_001127366.3:c.1417+56_1417+57delinsTC	NP_001120838.1:n.1417+56_1417+57delinsTC
NM_181457.4:c.*36_*37delinsTC	NP_852122.1:n.*36_*37delinsTC
NM_181458.4:c.1420+56_1420+57delinsTC MANE Select	NP_852123.1:n.1420+56_1420+57delinsTC
NM_181459.4:c.1420+56_1420+57delinsTC	NP_852124.1:n.1420+56_1420+57delinsTC
NM_181460.4:c.1174-446_1174-445delinsTC	NP_852125.1:n.1174-446_1174-445delinsTC
NM_181461.4:c.1174-446_1174-445delinsTC	NP_852126.1:n.1174-446_1174-445delinsTC