Canonical Allele Identifier: CA1725931221

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92494407_92494410delinsAAAG , CM000669.2:g.92494407_92494410delinsAAAG GRCh38
NC_000007.13:g.92123721_92123724delinsAAAG , CM000669.1:g.92123721_92123724delinsAAAG GRCh37
NC_000007.12:g.91961657_91961660delinsAAAG NCBI36
NG_008341.1:g.39122_39125delinsCTTT
NG_008341.2:g.39122_39125delinsCTTT

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.2927-14_2927-11delinsCTTT (PEX1) MANE Select ENSP00000248633.4:n.2927-14_2927-11delins...
ENST00000248633.8:c.2927-14_2927-11delinsCTTT (PEX1) ENSP00000248633.4:n.2927-14_2927-11delins...
ENST00000428214.5:c.2756-14_2756-11delinsCTTT (PEX1) ENSP00000394413.1:n.2756-14_2756-11delins...
ENST00000438045.5:c.1961-14_1961-11delinsCTTT (PEX1) ENSP00000410438.1:n.1961-14_1961-11delins...
ENST00000484913.5:n.2966-14_2966-11delinsCTTT (PEX1)
ENST00000496420.5:n.2819-14_2819-11delinsCTTT (PEX1)
NM_000466.2:c.2927-14_2927-11delinsCTTT (PEX1) NP_000457.1:n.2927-14_2927-11delinsCTTT
NM_001282677.1:c.2756-14_2756-11delinsCTTT (PEX1) NP_001269606.1:n.2756-14_2756-11delinsCTT...
NM_001282678.1:c.2303-14_2303-11delinsCTTT (PEX1) NP_001269607.1:n.2303-14_2303-11delinsCTT...
XM_005250433.3:c.1178-14_1178-11delinsCTTT (PEX1) XP_005250490.1:n.1178-14_1178-11delinsCTT...
XR_242246.3:n.3023-14_3023-11delinsCTTT (PEX1)
XM_017012319.2:c.1178-14_1178-11delinsCTTT (PEX1) XP_016867808.1:n.1178-14_1178-11delinsCTT...
XR_001744808.2:n.1954-14_1954-11delinsCTTT (PEX1)
XR_001744843.2:n.5376_5379delinsAAAG (GATAD1)
XR_242246.5:n.2974-14_2974-11delinsCTTT (PEX1)
XR_927494.3:n.4227_4230delinsAAAG (GATAD1)
XR_927503.3:n.4158_4161delinsAAAG (GATAD1)
NM_000466.3:c.2927-14_2927-11delinsCTTT (PEX1) MANE Select NP_000457.1:n.2927-14_2927-11delinsCTTT
NM_001282677.2:c.2756-14_2756-11delinsCTTT (PEX1) NP_001269606.1:n.2756-14_2756-11delinsCTT...
NM_001282678.2:c.2303-14_2303-11delinsCTTT (PEX1) NP_001269607.1:n.2303-14_2303-11delinsCTT...