Canonical Allele Identifier: CA1725947889

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517793_92517794delinsGA , CM000669.2:g.92517793_92517794delinsGA	GRCh38
NC_000007.13:g.92147107_92147108delinsGA , CM000669.1:g.92147107_92147108delinsGA	GRCh37
NC_000007.12:g.91985043_91985044delinsGA	NCBI36
NG_008341.1:g.15738_15739delinsTC
NG_008341.2:g.15738_15739delinsTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.721_722delinsTC MANE Select	ENSP00000248633.4:p.Ser241=
ENST00000248633.8:c.721_722delinsTC	ENSP00000248633.4:p.Ser241=
ENST00000428214.5:c.721_722delinsTC	ENSP00000394413.1:p.Ser241=
ENST00000438045.5:c.274-3827_274-3826delinsTC	ENSP00000410438.1:n.274-3827_274-3826deli...
ENST00000484913.5:n.760_761delinsTC
NM_000466.2:c.721_722delinsTC	NP_000457.1:p.Ser241=
NM_001282677.1:c.721_722delinsTC	NP_001269606.1:p.Ser241=
NM_001282678.1:c.97_98delinsTC	NP_001269607.1:p.Ser33=
XR_242246.3:n.817_818delinsTC
XR_242246.5:n.768_769delinsTC
NM_000466.3:c.721_722delinsTC MANE Select	NP_000457.1:p.Ser241=
NM_001282677.2:c.721_722delinsTC	NP_001269606.1:p.Ser241=
NM_001282678.2:c.97_98delinsTC	NP_001269607.1:p.Ser33=