Canonical Allele Identifier: CA2776945586

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491580_92491581insGT , CM000669.2:g.92491580_92491581insGT	GRCh38
NC_000007.13:g.92120894_92120895insGT , CM000669.1:g.92120894_92120895insGT	GRCh37
NC_000007.12:g.91958830_91958831insGT	NCBI36
NG_008341.1:g.41951_41952insAC
NG_008341.2:g.41951_41952insAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3208-79_3208-78insAC (PEX1) MANE Select	ENSP00000248633.4:n.3208-79_3208-78insAC
ENST00000248633.8:c.3208-79_3208-78insAC (PEX1)	ENSP00000248633.4:n.3208-79_3208-78insAC
ENST00000428214.5:c.3037-79_3037-78insAC (PEX1)	ENSP00000394413.1:n.3037-79_3037-78insAC
ENST00000438045.5:c.2242-79_2242-78insAC (PEX1)	ENSP00000410438.1:n.2242-79_2242-78insAC
ENST00000484913.5:n.3247-79_3247-78insAC (PEX1)
ENST00000496420.5:n.4263-79_4263-78insAC (PEX1)
NM_000466.2:c.3208-79_3208-78insAC (PEX1)	NP_000457.1:n.3208-79_3208-78insAC
NM_001282677.1:c.3037-79_3037-78insAC (PEX1)	NP_001269606.1:n.3037-79_3037-78insAC
NM_001282678.1:c.2584-79_2584-78insAC (PEX1)	NP_001269607.1:n.2584-79_2584-78insAC
XM_005250433.3:c.1459-79_1459-78insAC (PEX1)	XP_005250490.1:n.1459-79_1459-78insAC
XR_242246.3:n.3304-79_3304-78insAC (PEX1)
XM_017012319.2:c.1459-79_1459-78insAC (PEX1)	XP_016867808.1:n.1459-79_1459-78insAC
XR_001744808.2:n.2235-79_2235-78insAC (PEX1)
XR_001744842.2:n.2618_2619insGT (GATAD1)
XR_001744843.2:n.2549_2550insGT (GATAD1)
XR_002956472.1:n.2675_2676insGT (GATAD1)
XR_002956473.1:n.2706_2707insGT (GATAD1)
XR_002956474.1:n.2623_2624insGT (GATAD1)
XR_242246.5:n.3255-79_3255-78insAC (PEX1)
XR_927494.3:n.1400_1401insGT (GATAD1)
XR_927500.3:n.1397_1398insGT (GATAD1)
XR_927503.3:n.1331_1332insGT (GATAD1)
NM_000466.3:c.3208-79_3208-78insAC (PEX1) MANE Select	NP_000457.1:n.3208-79_3208-78insAC
NM_001282677.2:c.3037-79_3037-78insAC (PEX1)	NP_001269606.1:n.3037-79_3037-78insAC
NM_001282678.2:c.2584-79_2584-78insAC (PEX1)	NP_001269607.1:n.2584-79_2584-78insAC