Canonical Allele Identifier: CA2776947411

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518278_92518279insACA , CM000669.2:g.92518278_92518279insACA	GRCh38
NC_000007.13:g.92147592_92147593insACA , CM000669.1:g.92147592_92147593insACA	GRCh37
NC_000007.12:g.91985528_91985529insACA	NCBI36
NG_008341.1:g.15253_15254insTGT
NG_008341.2:g.15253_15254insTGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.358-24_358-23insTGT MANE Select	ENSP00000248633.4:n.358-24_358-23insTGT
ENST00000248633.8:c.358-24_358-23insTGT	ENSP00000248633.4:n.358-24_358-23insTGT
ENST00000428214.5:c.358-24_358-23insTGT	ENSP00000394413.1:n.358-24_358-23insTGT
ENST00000438045.5:c.273+3823_273+3824insTGT	ENSP00000410438.1:n.273+3823_273+3824insTGT
ENST00000484913.5:n.397-24_397-23insTGT
NM_000466.2:c.358-24_358-23insTGT	NP_000457.1:n.358-24_358-23insTGT
NM_001282677.1:c.358-24_358-23insTGT	NP_001269606.1:n.358-24_358-23insTGT
NM_001282678.1:c.-267-24_-267-23insTGT	NP_001269607.1:n.-267-24_-267-23insTGT
XR_242246.3:n.454-24_454-23insTGT
XR_242246.5:n.405-24_405-23insTGT
NM_000466.3:c.358-24_358-23insTGT MANE Select	NP_000457.1:n.358-24_358-23insTGT
NM_001282677.2:c.358-24_358-23insTGT	NP_001269606.1:n.358-24_358-23insTGT
NM_001282678.2:c.-267-24_-267-23insTGT	NP_001269607.1:n.-267-24_-267-23insTGT