Canonical Allele Identifier: CA1330546549

Gene: PAX3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.222297138_222297150delinsTGGTTGGGCAGCG , CM000664.2:g.222297138_222297150delinsTGGTTGGGCAGCG	GRCh38
NC_000002.11:g.223161857_223161869delinsTGGTTGGGCAGCG , CM000664.1:g.223161857_223161869delinsTGGTTGGGCAGCG	GRCh37
NC_000002.10:g.222870101_222870113delinsTGGTTGGGCAGCG	NCBI36
NG_011632.1:g.6832_6844delinsCGCTGCCCAACCA
NG_021186.1:g.3992_4004delinsTGGTTGGGCAGCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258387.6:c.149_161delinsCGCTGCCCAACCA	ENSP00000258387.5:p.Pro50=
ENST00000336840.11:c.149_161delinsCGCTGCCCAACCA	ENSP00000338767.5:p.Pro50=
ENST00000344493.9:c.149_161delinsCGCTGCCCAACCA	ENSP00000342092.4:p.Pro50=
ENST00000350526.9:c.149_161delinsCGCTGCCCAACCA	ENSP00000343052.4:p.Pro50=
ENST00000392070.7:c.149_161delinsCGCTGCCCAACCA MANE Select	ENSP00000375922.3:p.Pro50=
ENST00000647467.1:n.530_542delinsCGCTGCCCAACCA
ENST00000258387.5:c.149_161delinsCGCTGCCCAACCA	ENSP00000258387.5:p.Pro50=
ENST00000336840.10:c.149_161delinsCGCTGCCCAACCA	ENSP00000338767.5:p.Pro50=
ENST00000344493.8:c.149_161delinsCGCTGCCCAACCA	ENSP00000342092.4:p.Pro50=
ENST00000350526.8:c.149_161delinsCGCTGCCCAACCA	ENSP00000343052.4:p.Pro50=
ENST00000392069.6:c.149_161delinsCGCTGCCCAACCA	ENSP00000375921.2:p.Pro50=
ENST00000392070.6:c.149_161delinsCGCTGCCCAACCA	ENSP00000375922.2:p.Pro50=
ENST00000409551.7:c.149_161delinsCGCTGCCCAACCA	ENSP00000386750.3:p.Pro50=
ENST00000409828.7:c.149_161delinsCGCTGCCCAACCA	ENSP00000386817.3:p.Pro50=
NM_000438.5:c.149_161delinsCGCTGCCCAACCA	NP_000429.2:p.Pro50=
NM_001127366.2:c.149_161delinsCGCTGCCCAACCA	NP_001120838.1:p.Pro50=
NM_013942.4:c.149_161delinsCGCTGCCCAACCA	NP_039230.1:p.Pro50=
NM_181457.3:c.149_161delinsCGCTGCCCAACCA	NP_852122.1:p.Pro50=
NM_181458.3:c.149_161delinsCGCTGCCCAACCA	NP_852123.1:p.Pro50=
NM_181459.3:c.149_161delinsCGCTGCCCAACCA	NP_852124.1:p.Pro50=
NM_181460.3:c.149_161delinsCGCTGCCCAACCA	NP_852125.1:p.Pro50=
NM_181461.3:c.149_161delinsCGCTGCCCAACCA	NP_852126.1:p.Pro50=
XM_011511278.1:c.293_305delinsCGCTGCCCAACCA	XP_011509580.1:p.Pro98=
XM_011511280.1:c.293_305delinsCGCTGCCCAACCA	XP_011509582.1:p.Pro98=
XM_011511281.1:c.293_305delinsCGCTGCCCAACCA	XP_011509583.1:p.Pro98=
NM_000438.6:c.149_161delinsCGCTGCCCAACCA	NP_000429.2:p.Pro50=
NM_001127366.3:c.149_161delinsCGCTGCCCAACCA	NP_001120838.1:p.Pro50=
NM_013942.5:c.149_161delinsCGCTGCCCAACCA	NP_039230.1:p.Pro50=
NM_181457.4:c.149_161delinsCGCTGCCCAACCA	NP_852122.1:p.Pro50=
NM_181458.4:c.149_161delinsCGCTGCCCAACCA MANE Select	NP_852123.1:p.Pro50=
NM_181459.4:c.149_161delinsCGCTGCCCAACCA	NP_852124.1:p.Pro50=
NM_181460.4:c.149_161delinsCGCTGCCCAACCA	NP_852125.1:p.Pro50=
NM_181461.4:c.149_161delinsCGCTGCCCAACCA	NP_852126.1:p.Pro50=