Canonical Allele Identifier: CA2776945447

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92489925_92490251del , CM000669.2:g.92489925_92490251del GRCh38
NG_008341.2:g.43286_43612del

Transcript Alleles

HGVS Amino-acid Change
ENST00000248633.9:c.3439-335_3439-9del (PEX1) MANE Select ENSP00000248633.4:n.3439-335_3439-9del
ENST00000248633.8:c.3439-335_3439-9del (PEX1) ENSP00000248633.4:n.3439-335_3439-9del
ENST00000428214.5:c.3268-335_3268-9del (PEX1) ENSP00000394413.1:n.3268-335_3268-9del
ENST00000438045.5:c.2473-335_2473-9del (PEX1) ENSP00000410438.1:n.2473-335_2473-9del
ENST00000484913.5:n.3478-335_3478-9del (PEX1)
ENST00000496420.5:n.4494-335_4494-9del (PEX1)
NM_000466.2:c.3439-335_3439-9del (PEX1) NP_000457.1:n.3439-335_3439-9del
NM_001282677.1:c.3268-335_3268-9del (PEX1) NP_001269606.1:n.3268-335_3268-9del
NM_001282678.1:c.2815-335_2815-9del (PEX1) NP_001269607.1:n.2815-335_2815-9del
XM_005250433.3:c.1690-335_1690-9del (PEX1) XP_005250490.1:n.1690-335_1690-9del
XR_242246.3:n.3535-335_3535-9del (PEX1)
XR_927494.1:n.1036-1318_1036-992del (GATAD1)
XR_927495.1:n.1036-161_1201del (GATAD1)
XR_927496.1:n.1041-1318_1041-992del (GATAD1)
XR_927497.1:n.1036-161_1092+109del (GATAD1)
XR_927498.1:n.1124-1318_1124-992del (GATAD1)
XR_927500.1:n.1033-1318_1033-992del (GATAD1)
XR_927502.1:n.1033-161_1198del (GATAD1)
XR_927503.1:n.967-1318_967-992del (GATAD1)
XM_017012319.2:c.1690-335_1690-9del (PEX1) XP_016867808.1:n.1690-335_1690-9del
XR_001744808.2:n.2466-335_2466-9del (PEX1)
XR_001744842.2:n.2281-1318_2281-992del (GATAD1)
XR_001744843.2:n.2212-1318_2212-992del (GATAD1)
XR_002956472.1:n.2281-161_2337+109del (GATAD1)
XR_002956473.1:n.2369-1318_2369-992del (GATAD1)
XR_002956474.1:n.2286-1318_2286-992del (GATAD1)
XR_242246.5:n.3486-335_3486-9del (PEX1)
XR_927494.3:n.1063-1318_1063-992del (GATAD1)
XR_927500.3:n.1060-1318_1060-992del (GATAD1)
XR_927503.3:n.994-1318_994-992del (GATAD1)
NM_000466.3:c.3439-335_3439-9del (PEX1) MANE Select NP_000457.1:n.3439-335_3439-9del
NM_001282677.2:c.3268-335_3268-9del (PEX1) NP_001269606.1:n.3268-335_3268-9del
NM_001282678.2:c.2815-335_2815-9del (PEX1) NP_001269607.1:n.2815-335_2815-9del