Canonical Allele Identifier: CA2776947437

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518310_92518311insACA , CM000669.2:g.92518310_92518311insACA	GRCh38
NC_000007.13:g.92147624_92147625insACA , CM000669.1:g.92147624_92147625insACA	GRCh37
NC_000007.12:g.91985560_91985561insACA	NCBI36
NG_008341.1:g.15221_15222insTGT
NG_008341.2:g.15221_15222insTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.358-56_358-55insTGT MANE Select	ENSP00000248633.4:n.358-56_358-55insTGT
ENST00000248633.8:c.358-56_358-55insTGT	ENSP00000248633.4:n.358-56_358-55insTGT
ENST00000428214.5:c.358-56_358-55insTGT	ENSP00000394413.1:n.358-56_358-55insTGT
ENST00000438045.5:c.273+3791_273+3792insTGT	ENSP00000410438.1:n.273+3791_273+3792insTGT
ENST00000484913.5:n.397-56_397-55insTGT
NM_000466.2:c.358-56_358-55insTGT	NP_000457.1:n.358-56_358-55insTGT
NM_001282677.1:c.358-56_358-55insTGT	NP_001269606.1:n.358-56_358-55insTGT
NM_001282678.1:c.-267-56_-267-55insTGT	NP_001269607.1:n.-267-56_-267-55insTGT
XR_242246.3:n.454-56_454-55insTGT
XR_242246.5:n.405-56_405-55insTGT
NM_000466.3:c.358-56_358-55insTGT MANE Select	NP_000457.1:n.358-56_358-55insTGT
NM_001282677.2:c.358-56_358-55insTGT	NP_001269606.1:n.358-56_358-55insTGT
NM_001282678.2:c.-267-56_-267-55insTGT	NP_001269607.1:n.-267-56_-267-55insTGT