Canonical Allele Identifier: CA2663322160

Gene: PAX3

Linked Data

• gnomAD v4: 2-222201832-A-AATT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.222201832_222201833insATT , CM000664.2:g.222201832_222201833insATT	GRCh38
NC_000002.11:g.223066551_223066552insATT , CM000664.1:g.223066551_223066552insATT	GRCh37
NC_000002.10:g.222774795_222774796insATT	NCBI36
NG_011632.1:g.102149_102150insAAT

Transcript Alleles

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