Canonical Allele Identifier: CA1042721536

Gene: PAX3

Linked Data

• dbSNP Id: rs1692607573
• gnomAD v3: 2-222231835-TG-T
• gnomAD v4: 2-222231835-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.222231837del , CM000664.2:g.222231837del	GRCh38
NC_000002.11:g.223096556del , CM000664.1:g.223096556del	GRCh37
NC_000002.10:g.222804800del	NCBI36
NG_011632.1:g.72146del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336840.11:c.792+242del	ENSP00000338767.5:n.792+242del
ENST00000344493.9:c.792+242del	ENSP00000342092.4:n.792+242del
ENST00000350526.9:c.792+242del	ENSP00000343052.4:n.792+242del
ENST00000392070.7:c.792+242del MANE Select	ENSP00000375922.3:n.792+242del
ENST00000646154.1:n.606+242del
ENST00000336840.10:c.792+242del	ENSP00000338767.5:n.792+242del
ENST00000344493.8:c.792+242del	ENSP00000342092.4:n.792+242del
ENST00000350526.8:c.792+242del	ENSP00000343052.4:n.792+242del
ENST00000392069.6:c.792+242del	ENSP00000375921.2:n.792+242del
ENST00000392070.6:c.792+242del	ENSP00000375922.2:n.792+242del
ENST00000409551.7:c.789+242del	ENSP00000386750.3:n.789+242del
NM_001127366.2:c.789+242del	NP_001120838.1:n.789+242del
NM_181457.3:c.792+242del	NP_852122.1:n.792+242del
NM_181458.3:c.792+242del	NP_852123.1:n.792+242del
NM_181459.3:c.792+242del	NP_852124.1:n.792+242del
NM_181460.3:c.792+242del	NP_852125.1:n.792+242del
NM_181461.3:c.792+242del	NP_852126.1:n.792+242del
XM_011511278.1:c.936+242del	XP_011509580.1:n.936+242del
XM_011511279.1:c.228+242del	XP_011509581.1:n.228+242del
XR_923945.1:n.287+9867del
XR_923946.1:n.288-175del
NM_001127366.3:c.789+242del	NP_001120838.1:n.789+242del
NM_181457.4:c.792+242del	NP_852122.1:n.792+242del
NM_181458.4:c.792+242del MANE Select	NP_852123.1:n.792+242del
NM_181459.4:c.792+242del	NP_852124.1:n.792+242del
NM_181460.4:c.792+242del	NP_852125.1:n.792+242del
NM_181461.4:c.792+242del	NP_852126.1:n.792+242del