Canonical Allele Identifier: CA2776945979

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494686_92494687insCAG , CM000669.2:g.92494686_92494687insCAG	GRCh38
NC_000007.13:g.92124000_92124001insCAG , CM000669.1:g.92124000_92124001insCAG	GRCh37
NC_000007.12:g.91961936_91961937insCAG	NCBI36
NG_008341.1:g.38845_38846insCTG
NG_008341.2:g.38845_38846insCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2784-58_2784-57insCTG MANE Select	ENSP00000248633.4:n.2784-58_2784-57insCTG
ENST00000248633.8:c.2784-58_2784-57insCTG	ENSP00000248633.4:n.2784-58_2784-57insCTG
ENST00000428214.5:c.2613-58_2613-57insCTG	ENSP00000394413.1:n.2613-58_2613-57insCTG
ENST00000438045.5:c.1818-58_1818-57insCTG	ENSP00000410438.1:n.1818-58_1818-57insCTG
ENST00000484913.5:n.2823-58_2823-57insCTG
ENST00000496420.5:n.2676-58_2676-57insCTG
NM_000466.2:c.2784-58_2784-57insCTG	NP_000457.1:n.2784-58_2784-57insCTG
NM_001282677.1:c.2613-58_2613-57insCTG	NP_001269606.1:n.2613-58_2613-57insCTG
NM_001282678.1:c.2160-58_2160-57insCTG	NP_001269607.1:n.2160-58_2160-57insCTG
XM_005250433.3:c.1035-58_1035-57insCTG	XP_005250490.1:n.1035-58_1035-57insCTG
XR_242246.3:n.2880-58_2880-57insCTG
XM_017012319.2:c.1035-58_1035-57insCTG	XP_016867808.1:n.1035-58_1035-57insCTG
XR_001744808.2:n.1811-58_1811-57insCTG
XR_242246.5:n.2831-58_2831-57insCTG
NM_000466.3:c.2784-58_2784-57insCTG MANE Select	NP_000457.1:n.2784-58_2784-57insCTG
NM_001282677.2:c.2613-58_2613-57insCTG	NP_001269606.1:n.2613-58_2613-57insCTG
NM_001282678.2:c.2160-58_2160-57insCTG	NP_001269607.1:n.2160-58_2160-57insCTG