Canonical Allele Identifier: CA2663322144

Gene: PAX3

Linked Data

• gnomAD v4: 2-222201819-A-AT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.222201819_222201820insT , CM000664.2:g.222201819_222201820insT	GRCh38
NC_000002.11:g.223066538_223066539insT , CM000664.1:g.223066538_223066539insT	GRCh37
NC_000002.10:g.222774782_222774783insT	NCBI36
NG_011632.1:g.102162_102163insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336840.11:c.1174-378_1174-377insA	ENSP00000338767.5:n.1174-378_1174-377insA
ENST00000344493.9:c.1174-378_1174-377insA	ENSP00000342092.4:n.1174-378_1174-377insA
ENST00000350526.9:c.*104_*105insA	ENSP00000343052.4:n.*104_*105insA
ENST00000392070.7:c.1420+124_1420+125insA MANE Select	ENSP00000375922.3:n.1420+124_1420+125insA
ENST00000464706.6:n.858+124_858+125insA
ENST00000644699.1:n.746+124_746+125insA
ENST00000646154.1:n.1234+124_1234+125insA
ENST00000336840.10:c.1174-378_1174-377insA	ENSP00000338767.5:n.1174-378_1174-377insA
ENST00000344493.8:c.1174-378_1174-377insA	ENSP00000342092.4:n.1174-378_1174-377insA
ENST00000350526.8:c.*104_*105insA	ENSP00000343052.4:n.*104_*105insA
ENST00000392069.6:c.1420+124_1420+125insA	ENSP00000375921.2:n.1420+124_1420+125insA
ENST00000392070.6:c.1420+124_1420+125insA	ENSP00000375922.2:n.1420+124_1420+125insA
ENST00000409551.7:c.1417+124_1417+125insA	ENSP00000386750.3:n.1417+124_1417+125insA
NM_001127366.2:c.1417+124_1417+125insA	NP_001120838.1:n.1417+124_1417+125insA
NM_181457.3:c.*104_*105insA	NP_852122.1:n.*104_*105insA
NM_181458.3:c.1420+124_1420+125insA	NP_852123.1:n.1420+124_1420+125insA
NM_181459.3:c.1420+124_1420+125insA	NP_852124.1:n.1420+124_1420+125insA
NM_181460.3:c.1174-378_1174-377insA	NP_852125.1:n.1174-378_1174-377insA
NM_181461.3:c.1174-378_1174-377insA	NP_852126.1:n.1174-378_1174-377insA
XM_011511278.1:c.1564+124_1564+125insA	XP_011509580.1:n.1564+124_1564+125insA
XM_011511279.1:c.856+124_856+125insA	XP_011509581.1:n.856+124_856+125insA
NM_001127366.3:c.1417+124_1417+125insA	NP_001120838.1:n.1417+124_1417+125insA
NM_181457.4:c.*104_*105insA	NP_852122.1:n.*104_*105insA
NM_181458.4:c.1420+124_1420+125insA MANE Select	NP_852123.1:n.1420+124_1420+125insA
NM_181459.4:c.1420+124_1420+125insA	NP_852124.1:n.1420+124_1420+125insA
NM_181460.4:c.1174-378_1174-377insA	NP_852125.1:n.1174-378_1174-377insA
NM_181461.4:c.1174-378_1174-377insA	NP_852126.1:n.1174-378_1174-377insA