Canonical Allele Identifier: CA2776947651

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92522284_92522285insC , CM000669.2:g.92522284_92522285insC	GRCh38
NC_000007.13:g.92151598_92151599insC , CM000669.1:g.92151598_92151599insC	GRCh37
NC_000007.12:g.91989534_91989535insC	NCBI36
NG_008341.1:g.11247_11248insG
NG_008341.2:g.11247_11248insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.130-40_130-39insG MANE Select	ENSP00000248633.4:n.130-40_130-39insG
ENST00000248633.8:c.130-40_130-39insG	ENSP00000248633.4:n.130-40_130-39insG
ENST00000428214.5:c.130-40_130-39insG	ENSP00000394413.1:n.130-40_130-39insG
ENST00000438045.5:c.130-40_130-39insG	ENSP00000410438.1:n.130-40_130-39insG
ENST00000484913.5:n.134-40_134-39insG
NM_000466.2:c.130-40_130-39insG	NP_000457.1:n.130-40_130-39insG
NM_001282677.1:c.130-40_130-39insG	NP_001269606.1:n.130-40_130-39insG
NM_001282678.1:c.-530-40_-530-39insG	NP_001269607.1:n.-530-40_-530-39insG
XR_242246.3:n.226-40_226-39insG
XR_242246.5:n.177-40_177-39insG
NM_000466.3:c.130-40_130-39insG MANE Select	NP_000457.1:n.130-40_130-39insG
NM_001282677.2:c.130-40_130-39insG	NP_001269606.1:n.130-40_130-39insG
NM_001282678.2:c.-530-40_-530-39insG	NP_001269607.1:n.-530-40_-530-39insG