Canonical Allele Identifier: CA2663322163

Gene: PAX3

Linked Data

• gnomAD v4: 2-222201832-A-AAAT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.222201832_222201833insAAT , CM000664.2:g.222201832_222201833insAAT	GRCh38
NC_000002.11:g.223066551_223066552insAAT , CM000664.1:g.223066551_223066552insAAT	GRCh37
NC_000002.10:g.222774795_222774796insAAT	NCBI36
NG_011632.1:g.102149_102150insATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336840.11:c.1174-391_1174-390insATT	ENSP00000338767.5:n.1174-391_1174-390insATT
ENST00000344493.9:c.1174-391_1174-390insATT	ENSP00000342092.4:n.1174-391_1174-390insATT
ENST00000350526.9:c.*91_*92insATT	ENSP00000343052.4:n.*91_*92insATT
ENST00000392070.7:c.1420+111_1420+112insATT MANE Select	ENSP00000375922.3:n.1420+111_1420+112insATT
ENST00000464706.6:n.858+111_858+112insATT
ENST00000644699.1:n.746+111_746+112insATT
ENST00000646154.1:n.1234+111_1234+112insATT
ENST00000336840.10:c.1174-391_1174-390insATT	ENSP00000338767.5:n.1174-391_1174-390insATT
ENST00000344493.8:c.1174-391_1174-390insATT	ENSP00000342092.4:n.1174-391_1174-390insATT
ENST00000350526.8:c.*91_*92insATT	ENSP00000343052.4:n.*91_*92insATT
ENST00000392069.6:c.1420+111_1420+112insATT	ENSP00000375921.2:n.1420+111_1420+112insATT
ENST00000392070.6:c.1420+111_1420+112insATT	ENSP00000375922.2:n.1420+111_1420+112insATT
ENST00000409551.7:c.1417+111_1417+112insATT	ENSP00000386750.3:n.1417+111_1417+112insATT
NM_001127366.2:c.1417+111_1417+112insATT	NP_001120838.1:n.1417+111_1417+112insATT
NM_181457.3:c.*91_*92insATT	NP_852122.1:n.*91_*92insATT
NM_181458.3:c.1420+111_1420+112insATT	NP_852123.1:n.1420+111_1420+112insATT
NM_181459.3:c.1420+111_1420+112insATT	NP_852124.1:n.1420+111_1420+112insATT
NM_181460.3:c.1174-391_1174-390insATT	NP_852125.1:n.1174-391_1174-390insATT
NM_181461.3:c.1174-391_1174-390insATT	NP_852126.1:n.1174-391_1174-390insATT
XM_011511278.1:c.1564+111_1564+112insATT	XP_011509580.1:n.1564+111_1564+112insATT
XM_011511279.1:c.856+111_856+112insATT	XP_011509581.1:n.856+111_856+112insATT
NM_001127366.3:c.1417+111_1417+112insATT	NP_001120838.1:n.1417+111_1417+112insATT
NM_181457.4:c.*91_*92insATT	NP_852122.1:n.*91_*92insATT
NM_181458.4:c.1420+111_1420+112insATT MANE Select	NP_852123.1:n.1420+111_1420+112insATT
NM_181459.4:c.1420+111_1420+112insATT	NP_852124.1:n.1420+111_1420+112insATT
NM_181460.4:c.1174-391_1174-390insATT	NP_852125.1:n.1174-391_1174-390insATT
NM_181461.4:c.1174-391_1174-390insATT	NP_852126.1:n.1174-391_1174-390insATT