Canonical Allele Identifier: CA2578937740

Linked Data

ClinVar Variation Id: 2914699
ClinVar RCV Id: RCV003760557

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92489928_92489933dup , CM000669.2:g.92489928_92489933dup GRCh38
NC_000007.13:g.92119242_92119247dup , CM000669.1:g.92119242_92119247dup GRCh37
NC_000007.12:g.91957178_91957183dup NCBI36
NG_008341.1:g.43600_43605dup
NG_008341.2:g.43600_43605dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000248633.9:c.3439-21_3439-16dup (PEX1) MANE Select ENSP00000248633.4:n.3439-21_3439-16dup
ENST00000248633.8:c.3439-21_3439-16dup (PEX1) ENSP00000248633.4:n.3439-21_3439-16dup
ENST00000428214.5:c.3268-21_3268-16dup (PEX1) ENSP00000394413.1:n.3268-21_3268-16dup
ENST00000438045.5:c.2473-21_2473-16dup (PEX1) ENSP00000410438.1:n.2473-21_2473-16dup
ENST00000469417.1:n.315_320dup (PEX1)
ENST00000484913.5:n.3478-21_3478-16dup (PEX1)
ENST00000496420.5:n.4494-21_4494-16dup (PEX1)
NM_000466.2:c.3439-21_3439-16dup (PEX1) NP_000457.1:n.3439-21_3439-16dup
NM_001282677.1:c.3268-21_3268-16dup (PEX1) NP_001269606.1:n.3268-21_3268-16dup
NM_001282678.1:c.2815-21_2815-16dup (PEX1) NP_001269607.1:n.2815-21_2815-16dup
XM_005250433.3:c.1690-21_1690-16dup (PEX1) XP_005250490.1:n.1690-21_1690-16dup
XR_242246.3:n.3535-21_3535-16dup (PEX1)
XR_927494.1:n.1036-1315_1036-1310dup (GATAD1)
XR_927495.1:n.1036-158_1036-153dup (GATAD1)
XR_927496.1:n.1041-1315_1041-1310dup (GATAD1)
XR_927497.1:n.1036-158_1036-153dup (GATAD1)
XR_927498.1:n.1124-1315_1124-1310dup (GATAD1)
XR_927500.1:n.1033-1315_1033-1310dup (GATAD1)
XR_927502.1:n.1033-158_1033-153dup (GATAD1)
XR_927503.1:n.967-1315_967-1310dup (GATAD1)
XM_017012319.2:c.1690-21_1690-16dup (PEX1) XP_016867808.1:n.1690-21_1690-16dup
XR_001744808.2:n.2466-21_2466-16dup (PEX1)
XR_001744842.2:n.2281-1315_2281-1310dup (GATAD1)
XR_001744843.2:n.2212-1315_2212-1310dup (GATAD1)
XR_002956472.1:n.2281-158_2281-153dup (GATAD1)
XR_002956473.1:n.2369-1315_2369-1310dup (GATAD1)
XR_002956474.1:n.2286-1315_2286-1310dup (GATAD1)
XR_242246.5:n.3486-21_3486-16dup (PEX1)
XR_927494.3:n.1063-1315_1063-1310dup (GATAD1)
XR_927500.3:n.1060-1315_1060-1310dup (GATAD1)
XR_927503.3:n.994-1315_994-1310dup (GATAD1)
NM_000466.3:c.3439-21_3439-16dup (PEX1) MANE Select NP_000457.1:n.3439-21_3439-16dup
NM_001282677.2:c.3268-21_3268-16dup (PEX1) NP_001269606.1:n.3268-21_3268-16dup
NM_001282678.2:c.2815-21_2815-16dup (PEX1) NP_001269607.1:n.2815-21_2815-16dup