Canonical Allele Identifier: CA2573135303

Gene: PAX3

Linked Data

• ClinVar Variation Id: 1687163
• ClinVar RCV Id: RCV002250845
• dbSNP Id: rs2106095025

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.222232102del , CM000664.2:g.222232102del	GRCh38
NC_000002.11:g.223096821del , CM000664.1:g.223096821del	GRCh37
NC_000002.10:g.222805065del	NCBI36
NG_011632.1:g.71880del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336840.11:c.768del	ENSP00000338767.5:p.Lys257SerfsTer27
ENST00000344493.9:c.768del	ENSP00000342092.4:p.Lys257SerfsTer27
ENST00000350526.9:c.768del	ENSP00000343052.4:p.Lys257SerfsTer27
ENST00000392070.7:c.768del MANE Select	ENSP00000375922.3:p.Lys257SerfsTer27
ENST00000646154.1:n.582del
ENST00000336840.10:c.768del	ENSP00000338767.5:p.Lys257SerfsTer27
ENST00000344493.8:c.768del	ENSP00000342092.4:p.Lys257SerfsTer27
ENST00000350526.8:c.768del	ENSP00000343052.4:p.Lys257SerfsTer27
ENST00000392069.6:c.768del	ENSP00000375921.2:p.Lys257SerfsTer27
ENST00000392070.6:c.768del	ENSP00000375922.2:p.Lys257SerfsTer27
ENST00000409551.7:c.765del	ENSP00000386750.3:p.Lys256SerfsTer27
NM_001127366.2:c.765del	NP_001120838.1:p.Lys256SerfsTer27
NM_181457.3:c.768del	NP_852122.1:p.Lys257SerfsTer27
NM_181458.3:c.768del	NP_852123.1:p.Lys257SerfsTer27
NM_181459.3:c.768del	NP_852124.1:p.Lys257SerfsTer27
NM_181460.3:c.768del	NP_852125.1:p.Lys257SerfsTer27
NM_181461.3:c.768del	NP_852126.1:p.Lys257SerfsTer27
XM_011511278.1:c.912del	XP_011509580.1:p.Lys305SerfsTer27
XM_011511279.1:c.204del	XP_011509581.1:p.Lys69SerfsTer27
XR_923945.1:n.287+10132del
NM_001127366.3:c.765del	NP_001120838.1:p.Lys256SerfsTer27
NM_181457.4:c.768del	NP_852122.1:p.Lys257SerfsTer27
NM_181458.4:c.768del MANE Select	NP_852123.1:p.Lys257SerfsTer27
NM_181459.4:c.768del	NP_852124.1:p.Lys257SerfsTer27
NM_181460.4:c.768del	NP_852125.1:p.Lys257SerfsTer27
NM_181461.4:c.768del	NP_852126.1:p.Lys257SerfsTer27