Canonical Allele Identifier: CA2776947656

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92522291_92522292insA , CM000669.2:g.92522291_92522292insA	GRCh38
NC_000007.13:g.92151605_92151606insA , CM000669.1:g.92151605_92151606insA	GRCh37
NC_000007.12:g.91989541_91989542insA	NCBI36
NG_008341.1:g.11240_11241insT
NG_008341.2:g.11240_11241insT

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.130-47_130-46insT MANE Select	ENSP00000248633.4:n.130-47_130-46insT
ENST00000248633.8:c.130-47_130-46insT	ENSP00000248633.4:n.130-47_130-46insT
ENST00000428214.5:c.130-47_130-46insT	ENSP00000394413.1:n.130-47_130-46insT
ENST00000438045.5:c.130-47_130-46insT	ENSP00000410438.1:n.130-47_130-46insT
ENST00000484913.5:n.134-47_134-46insT
NM_000466.2:c.130-47_130-46insT	NP_000457.1:n.130-47_130-46insT
NM_001282677.1:c.130-47_130-46insT	NP_001269606.1:n.130-47_130-46insT
NM_001282678.1:c.-530-47_-530-46insT	NP_001269607.1:n.-530-47_-530-46insT
XR_242246.3:n.226-47_226-46insT
XR_242246.5:n.177-47_177-46insT
NM_000466.3:c.130-47_130-46insT MANE Select	NP_000457.1:n.130-47_130-46insT
NM_001282677.2:c.130-47_130-46insT	NP_001269606.1:n.130-47_130-46insT
NM_001282678.2:c.-530-47_-530-46insT	NP_001269607.1:n.-530-47_-530-46insT