Canonical Allele Identifier: CA2754390219

Gene: PAX3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.222201803_222201816del , CM000664.2:g.222201803_222201816del	GRCh38
NC_000002.11:g.223066522_223066535del , CM000664.1:g.223066522_223066535del	GRCh37
NC_000002.10:g.222774766_222774779del	NCBI36
NG_011632.1:g.102166_102179del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336840.11:c.1174-374_1174-361del	ENSP00000338767.5:n.1174-374_1174-361del
ENST00000344493.9:c.1174-374_1174-361del	ENSP00000342092.4:n.1174-374_1174-361del
ENST00000350526.9:c.*108_*121del	ENSP00000343052.4:n.*108_*121del
ENST00000392070.7:c.1420+128_1420+141del MANE Select	ENSP00000375922.3:n.1420+128_1420+141del
ENST00000464706.6:n.858+128_858+141del
ENST00000644699.1:n.746+128_746+141del
ENST00000646154.1:n.1234+128_1234+141del
ENST00000336840.10:c.1174-374_1174-361del	ENSP00000338767.5:n.1174-374_1174-361del
ENST00000344493.8:c.1174-374_1174-361del	ENSP00000342092.4:n.1174-374_1174-361del
ENST00000350526.8:c.*108_*121del	ENSP00000343052.4:n.*108_*121del
ENST00000392069.6:c.1420+128_1420+141del	ENSP00000375921.2:n.1420+128_1420+141del
ENST00000392070.6:c.1420+128_1420+141del	ENSP00000375922.2:n.1420+128_1420+141del
ENST00000409551.7:c.1417+128_1417+141del	ENSP00000386750.3:n.1417+128_1417+141del
NM_001127366.2:c.1417+128_1417+141del	NP_001120838.1:n.1417+128_1417+141del
NM_181457.3:c.*108_*121del	NP_852122.1:n.*108_*121del
NM_181458.3:c.1420+128_1420+141del	NP_852123.1:n.1420+128_1420+141del
NM_181459.3:c.1420+128_1420+141del	NP_852124.1:n.1420+128_1420+141del
NM_181460.3:c.1174-374_1174-361del	NP_852125.1:n.1174-374_1174-361del
NM_181461.3:c.1174-374_1174-361del	NP_852126.1:n.1174-374_1174-361del
XM_011511278.1:c.1564+128_1564+141del	XP_011509580.1:n.1564+128_1564+141del
XM_011511279.1:c.856+128_856+141del	XP_011509581.1:n.856+128_856+141del
NM_001127366.3:c.1417+128_1417+141del	NP_001120838.1:n.1417+128_1417+141del
NM_181457.4:c.*108_*121del	NP_852122.1:n.*108_*121del
NM_181458.4:c.1420+128_1420+141del MANE Select	NP_852123.1:n.1420+128_1420+141del
NM_181459.4:c.1420+128_1420+141del	NP_852124.1:n.1420+128_1420+141del
NM_181460.4:c.1174-374_1174-361del	NP_852125.1:n.1174-374_1174-361del
NM_181461.4:c.1174-374_1174-361del	NP_852126.1:n.1174-374_1174-361del