Canonical Allele Identifier: CA1725947286

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517415_92517416delinsTG , CM000669.2:g.92517415_92517416delinsTG	GRCh38
NC_000007.13:g.92146729_92146730delinsTG , CM000669.1:g.92146729_92146730delinsTG	GRCh37
NC_000007.12:g.91984665_91984666delinsTG	NCBI36
NG_008341.1:g.16116_16117delinsCA
NG_008341.2:g.16116_16117delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1099_1100delinsCA MANE Select	ENSP00000248633.4:p.Gln367=
ENST00000248633.8:c.1099_1100delinsCA	ENSP00000248633.4:p.Gln367=
ENST00000428214.5:c.1099_1100delinsCA	ENSP00000394413.1:p.Gln367=
ENST00000438045.5:c.274-3449_274-3448delinsCA	ENSP00000410438.1:n.274-3449_274-3448delinsCA
ENST00000484913.5:n.1138_1139delinsCA
NM_000466.2:c.1099_1100delinsCA	NP_000457.1:p.Gln367=
NM_001282677.1:c.1099_1100delinsCA	NP_001269606.1:p.Gln367=
NM_001282678.1:c.475_476delinsCA	NP_001269607.1:p.Gln159=
XR_242246.3:n.1195_1196delinsCA
XM_017012319.2:c.-568_-567delinsCA	XP_016867808.1:n.-568_-567delinsCA
XR_001744808.2:n.209_210delinsCA
XR_242246.5:n.1146_1147delinsCA
NM_000466.3:c.1099_1100delinsCA MANE Select	NP_000457.1:p.Gln367=
NM_001282677.2:c.1099_1100delinsCA	NP_001269606.1:p.Gln367=
NM_001282678.2:c.475_476delinsCA	NP_001269607.1:p.Gln159=