Canonical Allele Identifier: CA2776947695

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92522348_92522349insACT , CM000669.2:g.92522348_92522349insACT	GRCh38
NC_000007.13:g.92151662_92151663insACT , CM000669.1:g.92151662_92151663insACT	GRCh37
NC_000007.12:g.91989598_91989599insACT	NCBI36
NG_008341.1:g.11183_11184insAGT
NG_008341.2:g.11183_11184insAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.130-104_130-103insAGT MANE Select	ENSP00000248633.4:n.130-104_130-103insAGT
ENST00000248633.8:c.130-104_130-103insAGT	ENSP00000248633.4:n.130-104_130-103insAGT
ENST00000428214.5:c.130-104_130-103insAGT	ENSP00000394413.1:n.130-104_130-103insAGT
ENST00000438045.5:c.130-104_130-103insAGT	ENSP00000410438.1:n.130-104_130-103insAGT
ENST00000484913.5:n.134-104_134-103insAGT
NM_000466.2:c.130-104_130-103insAGT	NP_000457.1:n.130-104_130-103insAGT
NM_001282677.1:c.130-104_130-103insAGT	NP_001269606.1:n.130-104_130-103insAGT
NM_001282678.1:c.-530-104_-530-103insAGT	NP_001269607.1:n.-530-104_-530-103insAGT
XR_242246.3:n.226-104_226-103insAGT
XR_242246.5:n.177-104_177-103insAGT
NM_000466.3:c.130-104_130-103insAGT MANE Select	NP_000457.1:n.130-104_130-103insAGT
NM_001282677.2:c.130-104_130-103insAGT	NP_001269606.1:n.130-104_130-103insAGT
NM_001282678.2:c.-530-104_-530-103insAGT	NP_001269607.1:n.-530-104_-530-103insAGT