Canonical Allele Identifier: CA1725931937

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494861_92494865delinsTAAAG , CM000669.2:g.92494861_92494865delinsTAAAG	GRCh38
NC_000007.13:g.92124175_92124179delinsTAAAG , CM000669.1:g.92124175_92124179delinsTAAAG	GRCh37
NC_000007.12:g.91962111_91962115delinsTAAAG	NCBI36
NG_008341.1:g.38667_38671delinsCTTTA
NG_008341.2:g.38667_38671delinsCTTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2784-236_2784-232delinsCTTTA MANE Select	ENSP00000248633.4:n.2784-236_2784-232delinsCTTTA
ENST00000248633.8:c.2784-236_2784-232delinsCTTTA	ENSP00000248633.4:n.2784-236_2784-232delinsCTTTA
ENST00000428214.5:c.2613-236_2613-232delinsCTTTA	ENSP00000394413.1:n.2613-236_2613-232delinsCTTTA
ENST00000438045.5:c.1818-236_1818-232delinsCTTTA	ENSP00000410438.1:n.1818-236_1818-232delinsCTTTA
ENST00000484913.5:n.2823-236_2823-232delinsCTTTA
ENST00000496420.5:n.2676-236_2676-232delinsCTTTA
NM_000466.2:c.2784-236_2784-232delinsCTTTA	NP_000457.1:n.2784-236_2784-232delinsCTTTA
NM_001282677.1:c.2613-236_2613-232delinsCTTTA	NP_001269606.1:n.2613-236_2613-232delinsCTTTA
NM_001282678.1:c.2160-236_2160-232delinsCTTTA	NP_001269607.1:n.2160-236_2160-232delinsCTTTA
XM_005250433.3:c.1035-236_1035-232delinsCTTTA	XP_005250490.1:n.1035-236_1035-232delinsCTTTA
XR_242246.3:n.2880-236_2880-232delinsCTTTA
XM_017012319.2:c.1035-236_1035-232delinsCTTTA	XP_016867808.1:n.1035-236_1035-232delinsCTTTA
XR_001744808.2:n.1811-236_1811-232delinsCTTTA
XR_242246.5:n.2831-236_2831-232delinsCTTTA
NM_000466.3:c.2784-236_2784-232delinsCTTTA MANE Select	NP_000457.1:n.2784-236_2784-232delinsCTTTA
NM_001282677.2:c.2613-236_2613-232delinsCTTTA	NP_001269606.1:n.2613-236_2613-232delinsCTTTA
NM_001282678.2:c.2160-236_2160-232delinsCTTTA	NP_001269607.1:n.2160-236_2160-232delinsCTTTA