Canonical Allele Identifier: CA2776947673

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92522318_92522319insACG , CM000669.2:g.92522318_92522319insACG	GRCh38
NC_000007.13:g.92151632_92151633insACG , CM000669.1:g.92151632_92151633insACG	GRCh37
NC_000007.12:g.91989568_91989569insACG	NCBI36
NG_008341.1:g.11213_11214insCGT
NG_008341.2:g.11213_11214insCGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.130-74_130-73insCGT MANE Select	ENSP00000248633.4:n.130-74_130-73insCGT
ENST00000248633.8:c.130-74_130-73insCGT	ENSP00000248633.4:n.130-74_130-73insCGT
ENST00000428214.5:c.130-74_130-73insCGT	ENSP00000394413.1:n.130-74_130-73insCGT
ENST00000438045.5:c.130-74_130-73insCGT	ENSP00000410438.1:n.130-74_130-73insCGT
ENST00000484913.5:n.134-74_134-73insCGT
NM_000466.2:c.130-74_130-73insCGT	NP_000457.1:n.130-74_130-73insCGT
NM_001282677.1:c.130-74_130-73insCGT	NP_001269606.1:n.130-74_130-73insCGT
NM_001282678.1:c.-530-74_-530-73insCGT	NP_001269607.1:n.-530-74_-530-73insCGT
XR_242246.3:n.226-74_226-73insCGT
XR_242246.5:n.177-74_177-73insCGT
NM_000466.3:c.130-74_130-73insCGT MANE Select	NP_000457.1:n.130-74_130-73insCGT
NM_001282677.2:c.130-74_130-73insCGT	NP_001269606.1:n.130-74_130-73insCGT
NM_001282678.2:c.-530-74_-530-73insCGT	NP_001269607.1:n.-530-74_-530-73insCGT