Canonical Allele Identifier: CA1330546506
Gene: PAX3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.222297034_222297035delinsTG , CM000664.2:g.222297034_222297035delinsTG GRCh38
NC_000002.11:g.223161753_223161754delinsTG , CM000664.1:g.223161753_223161754delinsTG GRCh37
NC_000002.10:g.222869997_222869998delinsTG NCBI36
NG_011632.1:g.6947_6948delinsCA
NG_021186.1:g.3888_3889delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000258387.6:c.264_265delinsCA ENSP00000258387.5:p.Cys88=
ENST00000336840.11:c.264_265delinsCA ENSP00000338767.5:p.Cys88=
ENST00000344493.9:c.264_265delinsCA ENSP00000342092.4:p.Cys88=
ENST00000350526.9:c.264_265delinsCA ENSP00000343052.4:p.Cys88=
ENST00000392070.7:c.264_265delinsCA MANE Select ENSP00000375922.3:p.Cys88=
ENST00000647467.1:n.645_646delinsCA
ENST00000258387.5:c.264_265delinsCA ENSP00000258387.5:p.Cys88=
ENST00000336840.10:c.264_265delinsCA ENSP00000338767.5:p.Cys88=
ENST00000344493.8:c.264_265delinsCA ENSP00000342092.4:p.Cys88=
ENST00000350526.8:c.264_265delinsCA ENSP00000343052.4:p.Cys88=
ENST00000392069.6:c.264_265delinsCA ENSP00000375921.2:p.Cys88=
ENST00000392070.6:c.264_265delinsCA ENSP00000375922.2:p.Cys88=
ENST00000409551.7:c.264_265delinsCA ENSP00000386750.3:p.Cys88=
ENST00000409828.7:c.264_265delinsCA ENSP00000386817.3:p.Cys88=
NM_000438.5:c.264_265delinsCA NP_000429.2:p.Cys88=
NM_001127366.2:c.264_265delinsCA NP_001120838.1:p.Cys88=
NM_013942.4:c.264_265delinsCA NP_039230.1:p.Cys88=
NM_181457.3:c.264_265delinsCA NP_852122.1:p.Cys88=
NM_181458.3:c.264_265delinsCA NP_852123.1:p.Cys88=
NM_181459.3:c.264_265delinsCA NP_852124.1:p.Cys88=
NM_181460.3:c.264_265delinsCA NP_852125.1:p.Cys88=
NM_181461.3:c.264_265delinsCA NP_852126.1:p.Cys88=
XM_011511278.1:c.408_409delinsCA XP_011509580.1:p.Cys136=
XM_011511280.1:c.408_409delinsCA XP_011509582.1:p.Cys136=
XM_011511281.1:c.408_409delinsCA XP_011509583.1:p.Cys136=
NM_000438.6:c.264_265delinsCA NP_000429.2:p.Cys88=
NM_001127366.3:c.264_265delinsCA NP_001120838.1:p.Cys88=
NM_013942.5:c.264_265delinsCA NP_039230.1:p.Cys88=
NM_181457.4:c.264_265delinsCA NP_852122.1:p.Cys88=
NM_181458.4:c.264_265delinsCA MANE Select NP_852123.1:p.Cys88=
NM_181459.4:c.264_265delinsCA NP_852124.1:p.Cys88=
NM_181460.4:c.264_265delinsCA NP_852125.1:p.Cys88=
NM_181461.4:c.264_265delinsCA NP_852126.1:p.Cys88=