Canonical Allele Identifier: CA2579009538

Gene: PAX4

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.127614544_127614550del , CM000669.2:g.127614544_127614550del	GRCh38
NC_000007.13:g.127254598_127254604del , CM000669.1:g.127254598_127254604del	GRCh37
NC_000007.12:g.127041834_127041840del	NCBI36
NG_012848.1:g.6179_6185del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639438.3:c.370_376del MANE Select	ENSP00000491782.1:p.Ile124GlufsTer?
ENST00000338516.7:c.370_376del	ENSP00000344297.4:p.Ile124GlufsTer?
ENST00000341640.6:c.346_352del	ENSP00000339906.2:p.Ile116GlufsTer?
ENST00000378740.6:c.346_352del	ENSP00000368014.3:p.Ile116GlufsTer?
ENST00000463946.5:c.340_346del	ENSP00000451923.1:p.Ile114GlufsTer?
ENST00000477423.1:n.340_346del
ENST00000483494.5:c.340_346del	ENSP00000473846.1:p.Ile114GlufsTer?
ENST00000611453.1:c.340_346del	ENSP00000477877.1:p.Ile114GlufsTer?
NM_006193.2:c.346_352del	NP_006184.2:p.Ile116GlufsTer?
XM_011516276.1:c.370_376del	XP_011514578.1:p.Ile124GlufsTer?
NM_001366110.1:c.370_376del MANE Select	NP_001353039.1:p.Ile124GlufsTer?
NM_001366111.1:c.370_376del	NP_001353040.1:p.Ile124GlufsTer?