Canonical Allele Identifier: CA1725948630

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518268_92518272delinsGACGA , CM000669.2:g.92518268_92518272delinsGACGA	GRCh38
NC_000007.13:g.92147582_92147586delinsGACGA , CM000669.1:g.92147582_92147586delinsGACGA	GRCh37
NC_000007.12:g.91985518_91985522delinsGACGA	NCBI36
NG_008341.1:g.15260_15264delinsTCGTC
NG_008341.2:g.15260_15264delinsTCGTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.358-17_358-13delinsTCGTC MANE Select	ENSP00000248633.4:n.358-17_358-13delinsTC...
ENST00000248633.8:c.358-17_358-13delinsTCGTC	ENSP00000248633.4:n.358-17_358-13delinsTC...
ENST00000428214.5:c.358-17_358-13delinsTCGTC	ENSP00000394413.1:n.358-17_358-13delinsTC...
ENST00000438045.5:c.273+3830_273+3834delinsTCGTC	ENSP00000410438.1:n.273+3830_273+3834deli...
ENST00000484913.5:n.397-17_397-13delinsTCGTC
NM_000466.2:c.358-17_358-13delinsTCGTC	NP_000457.1:n.358-17_358-13delinsTCGTC
NM_001282677.1:c.358-17_358-13delinsTCGTC	NP_001269606.1:n.358-17_358-13delinsTCGTC...
NM_001282678.1:c.-267-17_-267-13delinsTCGTC	NP_001269607.1:n.-267-17_-267-13delinsTCG...
XR_242246.3:n.454-17_454-13delinsTCGTC
XR_242246.5:n.405-17_405-13delinsTCGTC
NM_000466.3:c.358-17_358-13delinsTCGTC MANE Select	NP_000457.1:n.358-17_358-13delinsTCGTC
NM_001282677.2:c.358-17_358-13delinsTCGTC	NP_001269606.1:n.358-17_358-13delinsTCGTC...
NM_001282678.2:c.-267-17_-267-13delinsTCGTC	NP_001269607.1:n.-267-17_-267-13delinsTCG...