Canonical Allele Identifier: CA1725928370

Gene: PEX1 GATAD1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92491377_92491381delinsTAAAG , CM000669.2:g.92491377_92491381delinsTAAAG	GRCh38
NC_000007.13:g.92120691_92120695delinsTAAAG , CM000669.1:g.92120691_92120695delinsTAAAG	GRCh37
NC_000007.12:g.91958627_91958631delinsTAAAG	NCBI36
NG_008341.1:g.42151_42155delinsCTTTA
NG_008341.2:g.42151_42155delinsCTTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.3329_3333delinsCTTTA (PEX1) MANE Select	ENSP00000248633.4:p.Ser1110=
ENST00000248633.8:c.3329_3333delinsCTTTA (PEX1)	ENSP00000248633.4:p.Ser1110=
ENST00000428214.5:c.3158_3162delinsCTTTA (PEX1)	ENSP00000394413.1:p.Ser1053=
ENST00000438045.5:c.2363_2367delinsCTTTA (PEX1)	ENSP00000410438.1:p.Ser788=
ENST00000484913.5:n.3368_3372delinsCTTTA (PEX1)
ENST00000496420.5:n.4384_4388delinsCTTTA (PEX1)
NM_000466.2:c.3329_3333delinsCTTTA (PEX1)	NP_000457.1:p.Ser1110=
NM_001282677.1:c.3158_3162delinsCTTTA (PEX1)	NP_001269606.1:p.Ser1053=
NM_001282678.1:c.2705_2709delinsCTTTA (PEX1)	NP_001269607.1:p.Ser902=
XM_005250433.3:c.1580_1584delinsCTTTA (PEX1)	XP_005250490.1:p.Ser527=
XR_242246.3:n.3425_3429delinsCTTTA (PEX1)
XM_017012319.2:c.1580_1584delinsCTTTA (PEX1)	XP_016867808.1:p.Ser527=
XR_001744808.2:n.2356_2360delinsCTTTA (PEX1)
XR_001744842.2:n.2415_2419delinsTAAAG (GATAD1)
XR_001744843.2:n.2346_2350delinsTAAAG (GATAD1)
XR_002956472.1:n.2472_2476delinsTAAAG (GATAD1)
XR_002956473.1:n.2503_2507delinsTAAAG (GATAD1)
XR_002956474.1:n.2420_2424delinsTAAAG (GATAD1)
XR_242246.5:n.3376_3380delinsCTTTA (PEX1)
XR_927494.3:n.1197_1201delinsTAAAG (GATAD1)
XR_927500.3:n.1194_1198delinsTAAAG (GATAD1)
XR_927503.3:n.1128_1132delinsTAAAG (GATAD1)
NM_000466.3:c.3329_3333delinsCTTTA (PEX1) MANE Select	NP_000457.1:p.Ser1110=
NM_001282677.2:c.3158_3162delinsCTTTA (PEX1)	NP_001269606.1:p.Ser1053=
NM_001282678.2:c.2705_2709delinsCTTTA (PEX1)	NP_001269607.1:p.Ser902=