Canonical Allele Identifier: CA1725931857

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494768_92494772delinsTAAAG , CM000669.2:g.92494768_92494772delinsTAAAG	GRCh38
NC_000007.13:g.92124082_92124086delinsTAAAG , CM000669.1:g.92124082_92124086delinsTAAAG	GRCh37
NC_000007.12:g.91962018_91962022delinsTAAAG	NCBI36
NG_008341.1:g.38760_38764delinsCTTTA
NG_008341.2:g.38760_38764delinsCTTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2784-143_2784-139delinsCTTTA MANE Select	ENSP00000248633.4:n.2784-143_2784-139delinsCTTTA
ENST00000248633.8:c.2784-143_2784-139delinsCTTTA	ENSP00000248633.4:n.2784-143_2784-139delinsCTTTA
ENST00000428214.5:c.2613-143_2613-139delinsCTTTA	ENSP00000394413.1:n.2613-143_2613-139delinsCTTTA
ENST00000438045.5:c.1818-143_1818-139delinsCTTTA	ENSP00000410438.1:n.1818-143_1818-139delinsCTTTA
ENST00000484913.5:n.2823-143_2823-139delinsCTTTA
ENST00000496420.5:n.2676-143_2676-139delinsCTTTA
NM_000466.2:c.2784-143_2784-139delinsCTTTA	NP_000457.1:n.2784-143_2784-139delinsCTTTA
NM_001282677.1:c.2613-143_2613-139delinsCTTTA	NP_001269606.1:n.2613-143_2613-139delinsCTTTA
NM_001282678.1:c.2160-143_2160-139delinsCTTTA	NP_001269607.1:n.2160-143_2160-139delinsCTTTA
XM_005250433.3:c.1035-143_1035-139delinsCTTTA	XP_005250490.1:n.1035-143_1035-139delinsCTTTA
XR_242246.3:n.2880-143_2880-139delinsCTTTA
XM_017012319.2:c.1035-143_1035-139delinsCTTTA	XP_016867808.1:n.1035-143_1035-139delinsCTTTA
XR_001744808.2:n.1811-143_1811-139delinsCTTTA
XR_242246.5:n.2831-143_2831-139delinsCTTTA
NM_000466.3:c.2784-143_2784-139delinsCTTTA MANE Select	NP_000457.1:n.2784-143_2784-139delinsCTTTA
NM_001282677.2:c.2613-143_2613-139delinsCTTTA	NP_001269606.1:n.2613-143_2613-139delinsCTTTA
NM_001282678.2:c.2160-143_2160-139delinsCTTTA	NP_001269607.1:n.2160-143_2160-139delinsCTTTA