Canonical Allele Identifier: CA2502574479

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491493_92491494insG , CM000669.2:g.92491493_92491494insG	GRCh38
NC_000007.13:g.92120807_92120808insG , CM000669.1:g.92120807_92120808insG	GRCh37
NC_000007.12:g.91958743_91958744insG	NCBI36
NG_008341.1:g.42038_42039insC
NG_008341.2:g.42038_42039insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3216_3217insC (PEX1) MANE Select	ENSP00000248633.4:p.Ser1073LeufsTer4
ENST00000248633.8:c.3216_3217insC (PEX1)	ENSP00000248633.4:p.Ser1073LeufsTer4
ENST00000428214.5:c.3045_3046insC (PEX1)	ENSP00000394413.1:p.Ser1016LeufsTer4
ENST00000438045.5:c.2250_2251insC (PEX1)	ENSP00000410438.1:p.Ser751LeufsTer4
ENST00000484913.5:n.3255_3256insC (PEX1)
ENST00000496420.5:n.4271_4272insC (PEX1)
NM_000466.2:c.3216_3217insC (PEX1)	NP_000457.1:p.Ser1073LeufsTer4
NM_001282677.1:c.3045_3046insC (PEX1)	NP_001269606.1:p.Ser1016LeufsTer4
NM_001282678.1:c.2592_2593insC (PEX1)	NP_001269607.1:p.Ser865LeufsTer4
XM_005250433.3:c.1467_1468insC (PEX1)	XP_005250490.1:p.Ser490LeufsTer4
XR_242246.3:n.3312_3313insC (PEX1)
XM_017012319.2:c.1467_1468insC (PEX1)	XP_016867808.1:p.Ser490LeufsTer4
XR_001744808.2:n.2243_2244insC (PEX1)
XR_001744842.2:n.2531_2532insG (GATAD1)
XR_001744843.2:n.2462_2463insG (GATAD1)
XR_002956472.1:n.2588_2589insG (GATAD1)
XR_002956473.1:n.2619_2620insG (GATAD1)
XR_002956474.1:n.2536_2537insG (GATAD1)
XR_242246.5:n.3263_3264insC (PEX1)
XR_927494.3:n.1313_1314insG (GATAD1)
XR_927500.3:n.1310_1311insG (GATAD1)
XR_927503.3:n.1244_1245insG (GATAD1)
NM_000466.3:c.3216_3217insC (PEX1) MANE Select	NP_000457.1:p.Ser1073LeufsTer4
NM_001282677.2:c.3045_3046insC (PEX1)	NP_001269606.1:p.Ser1016LeufsTer4
NM_001282678.2:c.2592_2593insC (PEX1)	NP_001269607.1:p.Ser865LeufsTer4