Canonical Allele Identifier: CA1725949433

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92519117_92519118delinsCT , CM000669.2:g.92519117_92519118delinsCT	GRCh38
NC_000007.13:g.92148431_92148432delinsCT , CM000669.1:g.92148431_92148432delinsCT	GRCh37
NC_000007.12:g.91986367_91986368delinsCT	NCBI36
NG_008341.1:g.14414_14415delinsAG
NG_008341.2:g.14414_14415delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.274-40_274-39delinsAG MANE Select	ENSP00000248633.4:n.274-40_274-39delinsAG
ENST00000248633.8:c.274-40_274-39delinsAG	ENSP00000248633.4:n.274-40_274-39delinsAG
ENST00000428214.5:c.274-40_274-39delinsAG	ENSP00000394413.1:n.274-40_274-39delinsAG
ENST00000438045.5:c.273+2984_273+2985delinsAG	ENSP00000410438.1:n.273+2984_273+2985delinsAG
ENST00000484913.5:n.278-40_278-39delinsAG
NM_000466.2:c.274-40_274-39delinsAG	NP_000457.1:n.274-40_274-39delinsAG
NM_001282677.1:c.274-40_274-39delinsAG	NP_001269606.1:n.274-40_274-39delinsAG
NM_001282678.1:c.-386-40_-386-39delinsAG	NP_001269607.1:n.-386-40_-386-39delinsAG
XR_242246.3:n.370-40_370-39delinsAG
XR_242246.5:n.321-40_321-39delinsAG
NM_000466.3:c.274-40_274-39delinsAG MANE Select	NP_000457.1:n.274-40_274-39delinsAG
NM_001282677.2:c.274-40_274-39delinsAG	NP_001269606.1:n.274-40_274-39delinsAG
NM_001282678.2:c.-386-40_-386-39delinsAG	NP_001269607.1:n.-386-40_-386-39delinsAG