Canonical Allele Identifier: CA765240195

Gene: PAX3

Linked Data

• dbSNP Id: rs1241043157
• gnomAD v4: 2-222201829-A-AG
• MyVariant Identifiers: chr2:g.223066548_223066549insG (hg19) ; chr2:g.222201829_222201830insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.222201829_222201830insG , CM000664.2:g.222201829_222201830insG	GRCh38
NC_000002.11:g.223066548_223066549insG , CM000664.1:g.223066548_223066549insG	GRCh37
NC_000002.10:g.222774792_222774793insG	NCBI36
NG_011632.1:g.102152_102153insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336840.11:c.1174-388_1174-387insC	ENSP00000338767.5:n.1174-388_1174-387insC
ENST00000344493.9:c.1174-388_1174-387insC	ENSP00000342092.4:n.1174-388_1174-387insC
ENST00000350526.9:c.*94_*95insC	ENSP00000343052.4:n.*94_*95insC
ENST00000392070.7:c.1420+114_1420+115insC MANE Select	ENSP00000375922.3:n.1420+114_1420+115insC
ENST00000464706.6:n.858+114_858+115insC
ENST00000644699.1:n.746+114_746+115insC
ENST00000646154.1:n.1234+114_1234+115insC
ENST00000336840.10:c.1174-388_1174-387insC	ENSP00000338767.5:n.1174-388_1174-387insC
ENST00000344493.8:c.1174-388_1174-387insC	ENSP00000342092.4:n.1174-388_1174-387insC
ENST00000350526.8:c.*94_*95insC	ENSP00000343052.4:n.*94_*95insC
ENST00000392069.6:c.1420+114_1420+115insC	ENSP00000375921.2:n.1420+114_1420+115insC
ENST00000392070.6:c.1420+114_1420+115insC	ENSP00000375922.2:n.1420+114_1420+115insC
ENST00000409551.7:c.1417+114_1417+115insC	ENSP00000386750.3:n.1417+114_1417+115insC
NM_001127366.2:c.1417+114_1417+115insC	NP_001120838.1:n.1417+114_1417+115insC
NM_181457.3:c.*94_*95insC	NP_852122.1:n.*94_*95insC
NM_181458.3:c.1420+114_1420+115insC	NP_852123.1:n.1420+114_1420+115insC
NM_181459.3:c.1420+114_1420+115insC	NP_852124.1:n.1420+114_1420+115insC
NM_181460.3:c.1174-388_1174-387insC	NP_852125.1:n.1174-388_1174-387insC
NM_181461.3:c.1174-388_1174-387insC	NP_852126.1:n.1174-388_1174-387insC
XM_011511278.1:c.1564+114_1564+115insC	XP_011509580.1:n.1564+114_1564+115insC
XM_011511279.1:c.856+114_856+115insC	XP_011509581.1:n.856+114_856+115insC
NM_001127366.3:c.1417+114_1417+115insC	NP_001120838.1:n.1417+114_1417+115insC
NM_181457.4:c.*94_*95insC	NP_852122.1:n.*94_*95insC
NM_181458.4:c.1420+114_1420+115insC MANE Select	NP_852123.1:n.1420+114_1420+115insC
NM_181459.4:c.1420+114_1420+115insC	NP_852124.1:n.1420+114_1420+115insC
NM_181460.4:c.1174-388_1174-387insC	NP_852125.1:n.1174-388_1174-387insC
NM_181461.4:c.1174-388_1174-387insC	NP_852126.1:n.1174-388_1174-387insC