Canonical Allele Identifier: CA1725930960

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494264_92494283delinsGTTTTGGACTCTAAATATGA , CM000669.2:g.92494264_92494283delinsGTTTTGGACTCTAAATATGA	GRCh38
NC_000007.13:g.92123578_92123597delinsGTTTTGGACTCTAAATATGA , CM000669.1:g.92123578_92123597delinsGTTTTGGACTCTAAATATGA	GRCh37
NC_000007.12:g.91961514_91961533delinsGTTTTGGACTCTAAATATGA	NCBI36
NG_008341.1:g.39249_39268delinsTCATATTTAGAGTCCAAAAC
NG_008341.2:g.39249_39268delinsTCATATTTAGAGTCCAAAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3030+10_3030+29delinsTCATATTTAGAGTCCAAAAC (PEX1) MANE Select	ENSP00000248633.4:n.3030+10_3030+29delinsTCATATTTAGAGTCCAAAAC...
ENST00000248633.8:c.3030+10_3030+29delinsTCATATTTAGAGTCCAAAAC (PEX1)	ENSP00000248633.4:n.3030+10_3030+29delinsTCATATTTAGAGTCCAAAAC...
ENST00000428214.5:c.2859+10_2859+29delinsTCATATTTAGAGTCCAAAAC (PEX1)	ENSP00000394413.1:n.2859+10_2859+29delinsTCATATTTAGAGTCCAAAAC...
ENST00000438045.5:c.2064+10_2064+29delinsTCATATTTAGAGTCCAAAAC (PEX1)	ENSP00000410438.1:n.2064+10_2064+29delinsTCATATTTAGAGTCCAAAAC...
ENST00000484913.5:n.3069+10_3069+29delinsTCATATTTAGAGTCCAAAAC (PEX1)
ENST00000496420.5:n.2932_2951delinsTCATATTTAGAGTCCAAAAC (PEX1)
NM_000466.2:c.3030+10_3030+29delinsTCATATTTAGAGTCCAAAAC (PEX1)	NP_000457.1:n.3030+10_3030+29delinsTCATATTTAGAGTCCAAAAC
NM_001282677.1:c.2859+10_2859+29delinsTCATATTTAGAGTCCAAAAC (PEX1)	NP_001269606.1:n.2859+10_2859+29delinsTCATATTTAGAGTCCAAAAC
NM_001282678.1:c.2406+10_2406+29delinsTCATATTTAGAGTCCAAAAC (PEX1)	NP_001269607.1:n.2406+10_2406+29delinsTCATATTTAGAGTCCAAAAC
XM_005250433.3:c.1281+10_1281+29delinsTCATATTTAGAGTCCAAAAC (PEX1)	XP_005250490.1:n.1281+10_1281+29delinsTCATATTTAGAGTCCAAAAC
XR_242246.3:n.3126+10_3126+29delinsTCATATTTAGAGTCCAAAAC (PEX1)
XM_017012319.2:c.1281+10_1281+29delinsTCATATTTAGAGTCCAAAAC (PEX1)	XP_016867808.1:n.1281+10_1281+29delinsTCATATTTAGAGTCCAAAAC
XR_001744808.2:n.2057+10_2057+29delinsTCATATTTAGAGTCCAAAAC (PEX1)
XR_001744843.2:n.5233_5252delinsGTTTTGGACTCTAAATATGA (GATAD1)
XR_242246.5:n.3077+10_3077+29delinsTCATATTTAGAGTCCAAAAC (PEX1)
XR_927494.3:n.4084_4103delinsGTTTTGGACTCTAAATATGA (GATAD1)
XR_927503.3:n.4015_4034delinsGTTTTGGACTCTAAATATGA (GATAD1)
NM_000466.3:c.3030+10_3030+29delinsTCATATTTAGAGTCCAAAAC (PEX1) MANE Select	NP_000457.1:n.3030+10_3030+29delinsTCATATTTAGAGTCCAAAAC
NM_001282677.2:c.2859+10_2859+29delinsTCATATTTAGAGTCCAAAAC (PEX1)	NP_001269606.1:n.2859+10_2859+29delinsTCATATTTAGAGTCCAAAAC
NM_001282678.2:c.2406+10_2406+29delinsTCATATTTAGAGTCCAAAAC (PEX1)	NP_001269607.1:n.2406+10_2406+29delinsTCATATTTAGAGTCCAAAAC