Canonical Allele Identifier: CA1725928448

Gene: PEX1 GATAD1

Linked Data

• dbSNP Id: rs1791309481

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491405_92491406insTTG , CM000669.2:g.92491405_92491406insTTG	GRCh38
NC_000007.13:g.92120719_92120720insTTG , CM000669.1:g.92120719_92120720insTTG	GRCh37
NC_000007.12:g.91958655_91958656insTTG	NCBI36
NG_008341.1:g.42126_42127insCAA
NG_008341.2:g.42126_42127insCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3304_3305insCAA (PEX1) MANE Select	ENSP00000248633.4:p.Cys1102delinsSerSer
ENST00000248633.8:c.3304_3305insCAA (PEX1)	ENSP00000248633.4:p.Cys1102delinsSerSer
ENST00000428214.5:c.3133_3134insCAA (PEX1)	ENSP00000394413.1:p.Cys1045delinsSerSer
ENST00000438045.5:c.2338_2339insCAA (PEX1)	ENSP00000410438.1:p.Cys780delinsSerSer
ENST00000484913.5:n.3343_3344insCAA (PEX1)
ENST00000496420.5:n.4359_4360insCAA (PEX1)
NM_000466.2:c.3304_3305insCAA (PEX1)	NP_000457.1:p.Cys1102delinsSerSer
NM_001282677.1:c.3133_3134insCAA (PEX1)	NP_001269606.1:p.Cys1045delinsSerSer
NM_001282678.1:c.2680_2681insCAA (PEX1)	NP_001269607.1:p.Cys894delinsSerSer
XM_005250433.3:c.1555_1556insCAA (PEX1)	XP_005250490.1:p.Cys519delinsSerSer
XR_242246.3:n.3400_3401insCAA (PEX1)
XM_017012319.2:c.1555_1556insCAA (PEX1)	XP_016867808.1:p.Cys519delinsSerSer
XR_001744808.2:n.2331_2332insCAA (PEX1)
XR_001744842.2:n.2443_2444insTTG (GATAD1)
XR_001744843.2:n.2374_2375insTTG (GATAD1)
XR_002956472.1:n.2500_2501insTTG (GATAD1)
XR_002956473.1:n.2531_2532insTTG (GATAD1)
XR_002956474.1:n.2448_2449insTTG (GATAD1)
XR_242246.5:n.3351_3352insCAA (PEX1)
XR_927494.3:n.1225_1226insTTG (GATAD1)
XR_927500.3:n.1222_1223insTTG (GATAD1)
XR_927503.3:n.1156_1157insTTG (GATAD1)
NM_000466.3:c.3304_3305insCAA (PEX1) MANE Select	NP_000457.1:p.Cys1102delinsSerSer
NM_001282677.2:c.3133_3134insCAA (PEX1)	NP_001269606.1:p.Cys1045delinsSerSer
NM_001282678.2:c.2680_2681insCAA (PEX1)	NP_001269607.1:p.Cys894delinsSerSer