Canonical Allele Identifier: CA1725931259

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92494430_92494438delinsCTGATGACA , CM000669.2:g.92494430_92494438delinsCTGATGACA GRCh38
NC_000007.13:g.92123744_92123752delinsCTGATGACA , CM000669.1:g.92123744_92123752delinsCTGATGACA GRCh37
NC_000007.12:g.91961680_91961688delinsCTGATGACA NCBI36
NG_008341.1:g.39094_39102delinsTGTCATCAG
NG_008341.2:g.39094_39102delinsTGTCATCAG

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.2927-42_2927-34delinsTGTCATCAG (PEX1) MANE Select ENSP00000248633.4:n.2927-42_2927-34delins...
ENST00000248633.8:c.2927-42_2927-34delinsTGTCATCAG (PEX1) ENSP00000248633.4:n.2927-42_2927-34delins...
ENST00000428214.5:c.2756-42_2756-34delinsTGTCATCAG (PEX1) ENSP00000394413.1:n.2756-42_2756-34delins...
ENST00000438045.5:c.1961-42_1961-34delinsTGTCATCAG (PEX1) ENSP00000410438.1:n.1961-42_1961-34delins...
ENST00000484913.5:n.2966-42_2966-34delinsTGTCATCAG (PEX1)
ENST00000496420.5:n.2819-42_2819-34delinsTGTCATCAG (PEX1)
NM_000466.2:c.2927-42_2927-34delinsTGTCATCAG (PEX1) NP_000457.1:n.2927-42_2927-34delinsTGTCAT...
NM_001282677.1:c.2756-42_2756-34delinsTGTCATCAG (PEX1) NP_001269606.1:n.2756-42_2756-34delinsTGT...
NM_001282678.1:c.2303-42_2303-34delinsTGTCATCAG (PEX1) NP_001269607.1:n.2303-42_2303-34delinsTGT...
XM_005250433.3:c.1178-42_1178-34delinsTGTCATCAG (PEX1) XP_005250490.1:n.1178-42_1178-34delinsTGT...
XR_242246.3:n.3023-42_3023-34delinsTGTCATCAG (PEX1)
XM_017012319.2:c.1178-42_1178-34delinsTGTCATCAG (PEX1) XP_016867808.1:n.1178-42_1178-34delinsTGT...
XR_001744808.2:n.1954-42_1954-34delinsTGTCATCAG (PEX1)
XR_001744843.2:n.5399_5407delinsCTGATGACA (GATAD1)
XR_242246.5:n.2974-42_2974-34delinsTGTCATCAG (PEX1)
XR_927494.3:n.4250_4258delinsCTGATGACA (GATAD1)
XR_927503.3:n.4181_4189delinsCTGATGACA (GATAD1)
NM_000466.3:c.2927-42_2927-34delinsTGTCATCAG (PEX1) MANE Select NP_000457.1:n.2927-42_2927-34delinsTGTCAT...
NM_001282677.2:c.2756-42_2756-34delinsTGTCATCAG (PEX1) NP_001269606.1:n.2756-42_2756-34delinsTGT...
NM_001282678.2:c.2303-42_2303-34delinsTGTCATCAG (PEX1) NP_001269607.1:n.2303-42_2303-34delinsTGT...