Canonical Allele Identifier: CA1725931018

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92494298_92494301delinsCAGG , CM000669.2:g.92494298_92494301delinsCAGG GRCh38
NC_000007.13:g.92123612_92123615delinsCAGG , CM000669.1:g.92123612_92123615delinsCAGG GRCh37
NC_000007.12:g.91961548_91961551delinsCAGG NCBI36
NG_008341.1:g.39231_39234delinsCCTG
NG_008341.2:g.39231_39234delinsCCTG

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.3022_3025delinsCCTG (PEX1) MANE Select ENSP00000248633.4:p.Pro1008=
ENST00000248633.8:c.3022_3025delinsCCTG (PEX1) ENSP00000248633.4:p.Pro1008=
ENST00000428214.5:c.2851_2854delinsCCTG (PEX1) ENSP00000394413.1:p.Pro951=
ENST00000438045.5:c.2056_2059delinsCCTG (PEX1) ENSP00000410438.1:p.Pro686=
ENST00000484913.5:n.3061_3064delinsCCTG (PEX1)
ENST00000496420.5:n.2914_2917delinsCCTG (PEX1)
NM_000466.2:c.3022_3025delinsCCTG (PEX1) NP_000457.1:p.Pro1008=
NM_001282677.1:c.2851_2854delinsCCTG (PEX1) NP_001269606.1:p.Pro951=
NM_001282678.1:c.2398_2401delinsCCTG (PEX1) NP_001269607.1:p.Pro800=
XM_005250433.3:c.1273_1276delinsCCTG (PEX1) XP_005250490.1:p.Pro425=
XR_242246.3:n.3118_3121delinsCCTG (PEX1)
XM_017012319.2:c.1273_1276delinsCCTG (PEX1) XP_016867808.1:p.Pro425=
XR_001744808.2:n.2049_2052delinsCCTG (PEX1)
XR_001744843.2:n.5267_5270delinsCAGG (GATAD1)
XR_242246.5:n.3069_3072delinsCCTG (PEX1)
XR_927494.3:n.4118_4121delinsCAGG (GATAD1)
XR_927503.3:n.4049_4052delinsCAGG (GATAD1)
NM_000466.3:c.3022_3025delinsCCTG (PEX1) MANE Select NP_000457.1:p.Pro1008=
NM_001282677.2:c.2851_2854delinsCCTG (PEX1) NP_001269606.1:p.Pro951=
NM_001282678.2:c.2398_2401delinsCCTG (PEX1) NP_001269607.1:p.Pro800=