Canonical Allele Identifier: CA1725949417

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92519102_92519109delinsACTACTTT , CM000669.2:g.92519102_92519109delinsACTACTTT	GRCh38
NC_000007.13:g.92148416_92148423delinsACTACTTT , CM000669.1:g.92148416_92148423delinsACTACTTT	GRCh37
NC_000007.12:g.91986352_91986359delinsACTACTTT	NCBI36
NG_008341.1:g.14423_14430delinsAAAGTAGT
NG_008341.2:g.14423_14430delinsAAAGTAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.274-31_274-24delinsAAAGTAGT MANE Select	ENSP00000248633.4:n.274-31_274-24delinsAAAGTAGT
ENST00000248633.8:c.274-31_274-24delinsAAAGTAGT	ENSP00000248633.4:n.274-31_274-24delinsAAAGTAGT
ENST00000428214.5:c.274-31_274-24delinsAAAGTAGT	ENSP00000394413.1:n.274-31_274-24delinsAAAGTAGT
ENST00000438045.5:c.273+2993_273+3000delinsAAAGTAGT	ENSP00000410438.1:n.273+2993_273+3000delinsAAAGTAGT
ENST00000484913.5:n.278-31_278-24delinsAAAGTAGT
NM_000466.2:c.274-31_274-24delinsAAAGTAGT	NP_000457.1:n.274-31_274-24delinsAAAGTAGT
NM_001282677.1:c.274-31_274-24delinsAAAGTAGT	NP_001269606.1:n.274-31_274-24delinsAAAGTAGT
NM_001282678.1:c.-386-31_-386-24delinsAAAGTAGT	NP_001269607.1:n.-386-31_-386-24delinsAAAGTAGT
XR_242246.3:n.370-31_370-24delinsAAAGTAGT
XR_242246.5:n.321-31_321-24delinsAAAGTAGT
NM_000466.3:c.274-31_274-24delinsAAAGTAGT MANE Select	NP_000457.1:n.274-31_274-24delinsAAAGTAGT
NM_001282677.2:c.274-31_274-24delinsAAAGTAGT	NP_001269606.1:n.274-31_274-24delinsAAAGTAGT
NM_001282678.2:c.-386-31_-386-24delinsAAAGTAGT	NP_001269607.1:n.-386-31_-386-24delinsAAAGTAGT