Canonical Allele Identifier: CA2776945614

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491658_92491659insACAC , CM000669.2:g.92491658_92491659insACAC	GRCh38
NC_000007.13:g.92120972_92120973insACAC , CM000669.1:g.92120972_92120973insACAC	GRCh37
NC_000007.12:g.91958908_91958909insACAC	NCBI36
NG_008341.1:g.41873_41874insGTGT
NG_008341.2:g.41873_41874insGTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3208-157_3208-156insGTGT (PEX1) MANE Select	ENSP00000248633.4:n.3208-157_3208-156insGTGT
ENST00000248633.8:c.3208-157_3208-156insGTGT (PEX1)	ENSP00000248633.4:n.3208-157_3208-156insGTGT
ENST00000428214.5:c.3037-157_3037-156insGTGT (PEX1)	ENSP00000394413.1:n.3037-157_3037-156insGTGT
ENST00000438045.5:c.2242-157_2242-156insGTGT (PEX1)	ENSP00000410438.1:n.2242-157_2242-156insGTGT
ENST00000484913.5:n.3247-157_3247-156insGTGT (PEX1)
ENST00000496420.5:n.4263-157_4263-156insGTGT (PEX1)
NM_000466.2:c.3208-157_3208-156insGTGT (PEX1)	NP_000457.1:n.3208-157_3208-156insGTGT
NM_001282677.1:c.3037-157_3037-156insGTGT (PEX1)	NP_001269606.1:n.3037-157_3037-156insGTGT
NM_001282678.1:c.2584-157_2584-156insGTGT (PEX1)	NP_001269607.1:n.2584-157_2584-156insGTGT
XM_005250433.3:c.1459-157_1459-156insGTGT (PEX1)	XP_005250490.1:n.1459-157_1459-156insGTGT
XR_242246.3:n.3304-157_3304-156insGTGT (PEX1)
XM_017012319.2:c.1459-157_1459-156insGTGT (PEX1)	XP_016867808.1:n.1459-157_1459-156insGTGT
XR_001744808.2:n.2235-157_2235-156insGTGT (PEX1)
XR_001744842.2:n.2696_2697insACAC (GATAD1)
XR_001744843.2:n.2627_2628insACAC (GATAD1)
XR_002956472.1:n.2753_2754insACAC (GATAD1)
XR_002956473.1:n.2784_2785insACAC (GATAD1)
XR_002956474.1:n.2701_2702insACAC (GATAD1)
XR_242246.5:n.3255-157_3255-156insGTGT (PEX1)
XR_927494.3:n.1478_1479insACAC (GATAD1)
XR_927500.3:n.1475_1476insACAC (GATAD1)
XR_927503.3:n.1409_1410insACAC (GATAD1)
NM_000466.3:c.3208-157_3208-156insGTGT (PEX1) MANE Select	NP_000457.1:n.3208-157_3208-156insGTGT
NM_001282677.2:c.3037-157_3037-156insGTGT (PEX1)	NP_001269606.1:n.3037-157_3037-156insGTGT
NM_001282678.2:c.2584-157_2584-156insGTGT (PEX1)	NP_001269607.1:n.2584-157_2584-156insGTGT