Canonical Allele Identifier: CA765234761

Gene: PAX3

Linked Data

• dbSNP Id: rs935423045
• gnomAD v3: 2-222272194-G-GA
• gnomAD v4: 2-222272194-G-GA
• MyVariant Identifiers: chr2:g.223136913_223136914insA (hg19) ; chr2:g.222272194_222272195insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.222272200dup , CM000664.2:g.222272200dup	GRCh38
NC_000002.11:g.223136919dup , CM000664.1:g.223136919dup	GRCh37
NC_000002.10:g.222845163dup	NCBI36
NG_011632.1:g.31787dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336840.11:c.586+21972dup	ENSP00000338767.5:n.586+21972dup
ENST00000344493.9:c.586+21972dup	ENSP00000342092.4:n.586+21972dup
ENST00000350526.9:c.586+21972dup	ENSP00000343052.4:n.586+21972dup
ENST00000392070.7:c.586+21972dup MANE Select	ENSP00000375922.3:n.586+21972dup
ENST00000644490.1:n.183-7070dup
ENST00000647467.1:n.968-7070dup
ENST00000336840.10:c.586+21972dup	ENSP00000338767.5:n.586+21972dup
ENST00000344493.8:c.586+21972dup	ENSP00000342092.4:n.586+21972dup
ENST00000350526.8:c.586+21972dup	ENSP00000343052.4:n.586+21972dup
ENST00000392069.6:c.586+21972dup	ENSP00000375921.2:n.586+21972dup
ENST00000392070.6:c.586+21972dup	ENSP00000375922.2:n.586+21972dup
ENST00000409551.7:c.583+21972dup	ENSP00000386750.3:n.583+21972dup
NM_001127366.2:c.583+21972dup	NP_001120838.1:n.583+21972dup
NM_181457.3:c.586+21972dup	NP_852122.1:n.586+21972dup
NM_181458.3:c.586+21972dup	NP_852123.1:n.586+21972dup
NM_181459.3:c.586+21972dup	NP_852124.1:n.586+21972dup
NM_181460.3:c.586+21972dup	NP_852125.1:n.586+21972dup
NM_181461.3:c.586+21972dup	NP_852126.1:n.586+21972dup
XM_011511278.1:c.730+21972dup	XP_011509580.1:n.730+21972dup
XM_011511280.1:c.731-7070dup	XP_011509582.1:n.731-7070dup
NM_001127366.3:c.583+21972dup	NP_001120838.1:n.583+21972dup
NM_181457.4:c.586+21972dup	NP_852122.1:n.586+21972dup
NM_181458.4:c.586+21972dup MANE Select	NP_852123.1:n.586+21972dup
NM_181459.4:c.586+21972dup	NP_852124.1:n.586+21972dup
NM_181460.4:c.586+21972dup	NP_852125.1:n.586+21972dup
NM_181461.4:c.586+21972dup	NP_852126.1:n.586+21972dup