Canonical Allele Identifier: CA1725931842

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494757_92494761delinsCAACA , CM000669.2:g.92494757_92494761delinsCAACA	GRCh38
NC_000007.13:g.92124071_92124075delinsCAACA , CM000669.1:g.92124071_92124075delinsCAACA	GRCh37
NC_000007.12:g.91962007_91962011delinsCAACA	NCBI36
NG_008341.1:g.38771_38775delinsTGTTG
NG_008341.2:g.38771_38775delinsTGTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2784-132_2784-128delinsTGTTG MANE Select	ENSP00000248633.4:n.2784-132_2784-128delinsTGTTG
ENST00000248633.8:c.2784-132_2784-128delinsTGTTG	ENSP00000248633.4:n.2784-132_2784-128delinsTGTTG
ENST00000428214.5:c.2613-132_2613-128delinsTGTTG	ENSP00000394413.1:n.2613-132_2613-128delinsTGTTG
ENST00000438045.5:c.1818-132_1818-128delinsTGTTG	ENSP00000410438.1:n.1818-132_1818-128delinsTGTTG
ENST00000484913.5:n.2823-132_2823-128delinsTGTTG
ENST00000496420.5:n.2676-132_2676-128delinsTGTTG
NM_000466.2:c.2784-132_2784-128delinsTGTTG	NP_000457.1:n.2784-132_2784-128delinsTGTTG
NM_001282677.1:c.2613-132_2613-128delinsTGTTG	NP_001269606.1:n.2613-132_2613-128delinsTGTTG
NM_001282678.1:c.2160-132_2160-128delinsTGTTG	NP_001269607.1:n.2160-132_2160-128delinsTGTTG
XM_005250433.3:c.1035-132_1035-128delinsTGTTG	XP_005250490.1:n.1035-132_1035-128delinsTGTTG
XR_242246.3:n.2880-132_2880-128delinsTGTTG
XM_017012319.2:c.1035-132_1035-128delinsTGTTG	XP_016867808.1:n.1035-132_1035-128delinsTGTTG
XR_001744808.2:n.1811-132_1811-128delinsTGTTG
XR_242246.5:n.2831-132_2831-128delinsTGTTG
NM_000466.3:c.2784-132_2784-128delinsTGTTG MANE Select	NP_000457.1:n.2784-132_2784-128delinsTGTTG
NM_001282677.2:c.2613-132_2613-128delinsTGTTG	NP_001269606.1:n.2613-132_2613-128delinsTGTTG
NM_001282678.2:c.2160-132_2160-128delinsTGTTG	NP_001269607.1:n.2160-132_2160-128delinsTGTTG