Canonical Allele Identifier: CA1725927086

Gene: PEX1 GATAD1

Linked Data

• dbSNP Id: rs1791181569

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92489805_92489813del , CM000669.2:g.92489805_92489813del	GRCh38
NC_000007.13:g.92119119_92119127del , CM000669.1:g.92119119_92119127del	GRCh37
NC_000007.12:g.91957055_91957063del	NCBI36
NG_008341.1:g.43721_43729del
NG_008341.2:g.43721_43729del

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.3539_3547del (PEX1) MANE Select	ENSP00000248633.4:p.Ala1180_Gln1182del
ENST00000248633.8:c.3539_3547del (PEX1)	ENSP00000248633.4:p.Ala1180_Gln1182del
ENST00000428214.5:c.3368_3376del (PEX1)	ENSP00000394413.1:p.Ala1123_Gln1125del
ENST00000438045.5:c.2573_2581del (PEX1)	ENSP00000410438.1:p.Ala858_Gln860del
ENST00000469417.1:n.436_444del (PEX1)
ENST00000484913.5:n.3578_3586del (PEX1)
ENST00000496420.5:n.4594_4602del (PEX1)
NM_000466.2:c.3539_3547del (PEX1)	NP_000457.1:p.Ala1180_Gln1182del
NM_001282677.1:c.3368_3376del (PEX1)	NP_001269606.1:p.Ala1123_Gln1125del
NM_001282678.1:c.2915_2923del (PEX1)	NP_001269607.1:p.Ala972_Gln974del
XM_005250433.3:c.1790_1798del (PEX1)	XP_005250490.1:p.Ala597_Gln599del
XR_242246.3:n.3635_3643del (PEX1)
XR_927494.1:n.1036-1438_1036-1430del (GATAD1)
XR_927495.1:n.1036-281_1036-273del (GATAD1)
XR_927496.1:n.1041-1438_1041-1430del (GATAD1)
XR_927497.1:n.1036-281_1036-273del (GATAD1)
XR_927498.1:n.1124-1438_1124-1430del (GATAD1)
XR_927500.1:n.1033-1438_1033-1430del (GATAD1)
XR_927502.1:n.1033-281_1033-273del (GATAD1)
XR_927503.1:n.967-1438_967-1430del (GATAD1)
XM_017012319.2:c.1790_1798del (PEX1)	XP_016867808.1:p.Ala597_Gln599del
XR_001744808.2:n.2566_2574del (PEX1)
XR_001744842.2:n.2281-1438_2281-1430del (GATAD1)
XR_001744843.2:n.2212-1438_2212-1430del (GATAD1)
XR_002956472.1:n.2281-281_2281-273del (GATAD1)
XR_002956473.1:n.2369-1438_2369-1430del (GATAD1)
XR_002956474.1:n.2286-1438_2286-1430del (GATAD1)
XR_242246.5:n.3586_3594del (PEX1)
XR_927494.3:n.1063-1438_1063-1430del (GATAD1)
XR_927500.3:n.1060-1438_1060-1430del (GATAD1)
XR_927503.3:n.994-1438_994-1430del (GATAD1)
NM_000466.3:c.3539_3547del (PEX1) MANE Select	NP_000457.1:p.Ala1180_Gln1182del
NM_001282677.2:c.3368_3376del (PEX1)	NP_001269606.1:p.Ala1123_Gln1125del
NM_001282678.2:c.2915_2923del (PEX1)	NP_001269607.1:p.Ala972_Gln974del