Canonical Allele Identifier: CA1742010043

Gene: PAX4

Linked Data

• dbSNP Id: rs1794692378

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.127614540_127614542del , CM000669.2:g.127614540_127614542del	GRCh38
NC_000007.13:g.127254594_127254596del , CM000669.1:g.127254594_127254596del	GRCh37
NC_000007.12:g.127041830_127041832del	NCBI36
NG_012848.1:g.6185_6187del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639438.3:c.376_378del MANE Select	ENSP00000491782.1:p.Arg126del
ENST00000338516.7:c.376_378del	ENSP00000344297.4:p.Arg126del
ENST00000341640.6:c.352_354del	ENSP00000339906.2:p.Arg118del
ENST00000378740.6:c.352_354del	ENSP00000368014.3:p.Arg118del
ENST00000463946.5:c.346_348del	ENSP00000451923.1:p.Arg116del
ENST00000477423.1:n.346_348del
ENST00000483494.5:c.346_348del	ENSP00000473846.1:p.Arg116del
ENST00000611453.1:c.346_348del	ENSP00000477877.1:p.Arg116del
NM_006193.2:c.352_354del	NP_006184.2:p.Arg118del
XM_011516276.1:c.376_378del	XP_011514578.1:p.Arg126del
NM_001366110.1:c.376_378del MANE Select	NP_001353039.1:p.Arg126del
NM_001366111.1:c.376_378del	NP_001353040.1:p.Arg126del