Canonical Allele Identifier: CA1330534490

Gene: PAX3

Linked Data

• dbSNP Id: rs1694278107

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.222272226_222272227insCT , CM000664.2:g.222272226_222272227insCT	GRCh38
NC_000002.11:g.223136945_223136946insCT , CM000664.1:g.223136945_223136946insCT	GRCh37
NC_000002.10:g.222845189_222845190insCT	NCBI36
NG_011632.1:g.31755_31756insAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336840.11:c.586+21940_586+21941insAG	ENSP00000338767.5:n.586+21940_586+21941insAG
ENST00000344493.9:c.586+21940_586+21941insAG	ENSP00000342092.4:n.586+21940_586+21941insAG
ENST00000350526.9:c.586+21940_586+21941insAG	ENSP00000343052.4:n.586+21940_586+21941insAG
ENST00000392070.7:c.586+21940_586+21941insAG MANE Select	ENSP00000375922.3:n.586+21940_586+21941insAG
ENST00000644490.1:n.183-7102_183-7101insAG
ENST00000647467.1:n.968-7102_968-7101insAG
ENST00000336840.10:c.586+21940_586+21941insAG	ENSP00000338767.5:n.586+21940_586+21941insAG
ENST00000344493.8:c.586+21940_586+21941insAG	ENSP00000342092.4:n.586+21940_586+21941insAG
ENST00000350526.8:c.586+21940_586+21941insAG	ENSP00000343052.4:n.586+21940_586+21941insAG
ENST00000392069.6:c.586+21940_586+21941insAG	ENSP00000375921.2:n.586+21940_586+21941insAG
ENST00000392070.6:c.586+21940_586+21941insAG	ENSP00000375922.2:n.586+21940_586+21941insAG
ENST00000409551.7:c.583+21940_583+21941insAG	ENSP00000386750.3:n.583+21940_583+21941insAG
NM_001127366.2:c.583+21940_583+21941insAG	NP_001120838.1:n.583+21940_583+21941insAG
NM_181457.3:c.586+21940_586+21941insAG	NP_852122.1:n.586+21940_586+21941insAG
NM_181458.3:c.586+21940_586+21941insAG	NP_852123.1:n.586+21940_586+21941insAG
NM_181459.3:c.586+21940_586+21941insAG	NP_852124.1:n.586+21940_586+21941insAG
NM_181460.3:c.586+21940_586+21941insAG	NP_852125.1:n.586+21940_586+21941insAG
NM_181461.3:c.586+21940_586+21941insAG	NP_852126.1:n.586+21940_586+21941insAG
XM_011511278.1:c.730+21940_730+21941insAG	XP_011509580.1:n.730+21940_730+21941insAG
XM_011511280.1:c.731-7102_731-7101insAG	XP_011509582.1:n.731-7102_731-7101insAG
NM_001127366.3:c.583+21940_583+21941insAG	NP_001120838.1:n.583+21940_583+21941insAG
NM_181457.4:c.586+21940_586+21941insAG	NP_852122.1:n.586+21940_586+21941insAG
NM_181458.4:c.586+21940_586+21941insAG MANE Select	NP_852123.1:n.586+21940_586+21941insAG
NM_181459.4:c.586+21940_586+21941insAG	NP_852124.1:n.586+21940_586+21941insAG
NM_181460.4:c.586+21940_586+21941insAG	NP_852125.1:n.586+21940_586+21941insAG
NM_181461.4:c.586+21940_586+21941insAG	NP_852126.1:n.586+21940_586+21941insAG