Canonical Allele Identifier: CA2663322148

Gene: PAX3

Linked Data

• gnomAD v4: 2-222201824-A-AT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.222201824_222201825insT , CM000664.2:g.222201824_222201825insT	GRCh38
NC_000002.11:g.223066543_223066544insT , CM000664.1:g.223066543_223066544insT	GRCh37
NC_000002.10:g.222774787_222774788insT	NCBI36
NG_011632.1:g.102157_102158insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336840.11:c.1174-383_1174-382insA	ENSP00000338767.5:n.1174-383_1174-382insA
ENST00000344493.9:c.1174-383_1174-382insA	ENSP00000342092.4:n.1174-383_1174-382insA
ENST00000350526.9:c.*99_*100insA	ENSP00000343052.4:n.*99_*100insA
ENST00000392070.7:c.1420+119_1420+120insA MANE Select	ENSP00000375922.3:n.1420+119_1420+120insA
ENST00000464706.6:n.858+119_858+120insA
ENST00000644699.1:n.746+119_746+120insA
ENST00000646154.1:n.1234+119_1234+120insA
ENST00000336840.10:c.1174-383_1174-382insA	ENSP00000338767.5:n.1174-383_1174-382insA
ENST00000344493.8:c.1174-383_1174-382insA	ENSP00000342092.4:n.1174-383_1174-382insA
ENST00000350526.8:c.*99_*100insA	ENSP00000343052.4:n.*99_*100insA
ENST00000392069.6:c.1420+119_1420+120insA	ENSP00000375921.2:n.1420+119_1420+120insA
ENST00000392070.6:c.1420+119_1420+120insA	ENSP00000375922.2:n.1420+119_1420+120insA
ENST00000409551.7:c.1417+119_1417+120insA	ENSP00000386750.3:n.1417+119_1417+120insA
NM_001127366.2:c.1417+119_1417+120insA	NP_001120838.1:n.1417+119_1417+120insA
NM_181457.3:c.*99_*100insA	NP_852122.1:n.*99_*100insA
NM_181458.3:c.1420+119_1420+120insA	NP_852123.1:n.1420+119_1420+120insA
NM_181459.3:c.1420+119_1420+120insA	NP_852124.1:n.1420+119_1420+120insA
NM_181460.3:c.1174-383_1174-382insA	NP_852125.1:n.1174-383_1174-382insA
NM_181461.3:c.1174-383_1174-382insA	NP_852126.1:n.1174-383_1174-382insA
XM_011511278.1:c.1564+119_1564+120insA	XP_011509580.1:n.1564+119_1564+120insA
XM_011511279.1:c.856+119_856+120insA	XP_011509581.1:n.856+119_856+120insA
NM_001127366.3:c.1417+119_1417+120insA	NP_001120838.1:n.1417+119_1417+120insA
NM_181457.4:c.*99_*100insA	NP_852122.1:n.*99_*100insA
NM_181458.4:c.1420+119_1420+120insA MANE Select	NP_852123.1:n.1420+119_1420+120insA
NM_181459.4:c.1420+119_1420+120insA	NP_852124.1:n.1420+119_1420+120insA
NM_181460.4:c.1174-383_1174-382insA	NP_852125.1:n.1174-383_1174-382insA
NM_181461.4:c.1174-383_1174-382insA	NP_852126.1:n.1174-383_1174-382insA