Canonical Allele Identifier: CA4467904

Gene: PAX4

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.127611672dup , CM000669.2:g.127611672dup	GRCh38
NC_000007.13:g.127251726dup , CM000669.1:g.127251726dup	GRCh37
NC_000007.12:g.127038962dup	NCBI36
NG_012848.1:g.9058dup

Transcript Alleles

HGVS	Amino-acid Change
NM_001366110.1:c.779dup MANE Select	NP_001353039.1:p.Gly261TrpfsTer?
ENST00000639438.3:c.779dup MANE Select	ENSP00000491782.1:p.Gly261TrpfsTer?
NM_001366111.1:c.779dup	NP_001353040.1:p.Gly261TrpfsTer?
NM_006193.2:c.755dup	NP_006184.2:p.Gly253TrpfsTer?
ENST00000338516.7:c.779dup	ENSP00000344297.4:p.Gly261TrpfsTer?
ENST00000341640.6:c.755dup	ENSP00000339906.2:p.Gly253TrpfsTer?
ENST00000378740.6:c.755dup	ENSP00000368014.3:p.Gly253TrpfsTer?
ENST00000463946.5:c.749dup	ENSP00000451923.1:p.Gly251TrpfsTer?
ENST00000483494.5:c.*147dup	ENSP00000473846.1:n.*147dup
XM_011516276.1:c.779dup	XP_011514578.1:p.Gly261TrpfsTer?