Canonical Allele Identifier: CA2776947664

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92522298_92522299insCT , CM000669.2:g.92522298_92522299insCT	GRCh38
NC_000007.13:g.92151612_92151613insCT , CM000669.1:g.92151612_92151613insCT	GRCh37
NC_000007.12:g.91989548_91989549insCT	NCBI36
NG_008341.1:g.11233_11234insAG
NG_008341.2:g.11233_11234insAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.130-54_130-53insAG MANE Select	ENSP00000248633.4:n.130-54_130-53insAG
ENST00000248633.8:c.130-54_130-53insAG	ENSP00000248633.4:n.130-54_130-53insAG
ENST00000428214.5:c.130-54_130-53insAG	ENSP00000394413.1:n.130-54_130-53insAG
ENST00000438045.5:c.130-54_130-53insAG	ENSP00000410438.1:n.130-54_130-53insAG
ENST00000484913.5:n.134-54_134-53insAG
NM_000466.2:c.130-54_130-53insAG	NP_000457.1:n.130-54_130-53insAG
NM_001282677.1:c.130-54_130-53insAG	NP_001269606.1:n.130-54_130-53insAG
NM_001282678.1:c.-530-54_-530-53insAG	NP_001269607.1:n.-530-54_-530-53insAG
XR_242246.3:n.226-54_226-53insAG
XR_242246.5:n.177-54_177-53insAG
NM_000466.3:c.130-54_130-53insAG MANE Select	NP_000457.1:n.130-54_130-53insAG
NM_001282677.2:c.130-54_130-53insAG	NP_001269606.1:n.130-54_130-53insAG
NM_001282678.2:c.-530-54_-530-53insAG	NP_001269607.1:n.-530-54_-530-53insAG