Canonical Allele Identifier: CA2776947560

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92519121_92519122insACA , CM000669.2:g.92519121_92519122insACA	GRCh38
NC_000007.13:g.92148435_92148436insACA , CM000669.1:g.92148435_92148436insACA	GRCh37
NC_000007.12:g.91986371_91986372insACA	NCBI36
NG_008341.1:g.14410_14411insTGT
NG_008341.2:g.14410_14411insTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.274-44_274-43insTGT MANE Select	ENSP00000248633.4:n.274-44_274-43insTGT
ENST00000248633.8:c.274-44_274-43insTGT	ENSP00000248633.4:n.274-44_274-43insTGT
ENST00000428214.5:c.274-44_274-43insTGT	ENSP00000394413.1:n.274-44_274-43insTGT
ENST00000438045.5:c.273+2980_273+2981insTGT	ENSP00000410438.1:n.273+2980_273+2981insTGT
ENST00000484913.5:n.278-44_278-43insTGT
NM_000466.2:c.274-44_274-43insTGT	NP_000457.1:n.274-44_274-43insTGT
NM_001282677.1:c.274-44_274-43insTGT	NP_001269606.1:n.274-44_274-43insTGT
NM_001282678.1:c.-386-44_-386-43insTGT	NP_001269607.1:n.-386-44_-386-43insTGT
XR_242246.3:n.370-44_370-43insTGT
XR_242246.5:n.321-44_321-43insTGT
NM_000466.3:c.274-44_274-43insTGT MANE Select	NP_000457.1:n.274-44_274-43insTGT
NM_001282677.2:c.274-44_274-43insTGT	NP_001269606.1:n.274-44_274-43insTGT
NM_001282678.2:c.-386-44_-386-43insTGT	NP_001269607.1:n.-386-44_-386-43insTGT