Canonical Allele Identifier: CA2776946089

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494744_92494745insACA , CM000669.2:g.92494744_92494745insACA	GRCh38
NC_000007.13:g.92124058_92124059insACA , CM000669.1:g.92124058_92124059insACA	GRCh37
NC_000007.12:g.91961994_91961995insACA	NCBI36
NG_008341.1:g.38787_38788insTGT
NG_008341.2:g.38787_38788insTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2784-116_2784-115insTGT MANE Select	ENSP00000248633.4:n.2784-116_2784-115insTGT
ENST00000248633.8:c.2784-116_2784-115insTGT	ENSP00000248633.4:n.2784-116_2784-115insTGT
ENST00000428214.5:c.2613-116_2613-115insTGT	ENSP00000394413.1:n.2613-116_2613-115insTGT
ENST00000438045.5:c.1818-116_1818-115insTGT	ENSP00000410438.1:n.1818-116_1818-115insTGT
ENST00000484913.5:n.2823-116_2823-115insTGT
ENST00000496420.5:n.2676-116_2676-115insTGT
NM_000466.2:c.2784-116_2784-115insTGT	NP_000457.1:n.2784-116_2784-115insTGT
NM_001282677.1:c.2613-116_2613-115insTGT	NP_001269606.1:n.2613-116_2613-115insTGT
NM_001282678.1:c.2160-116_2160-115insTGT	NP_001269607.1:n.2160-116_2160-115insTGT
XM_005250433.3:c.1035-116_1035-115insTGT	XP_005250490.1:n.1035-116_1035-115insTGT
XR_242246.3:n.2880-116_2880-115insTGT
XM_017012319.2:c.1035-116_1035-115insTGT	XP_016867808.1:n.1035-116_1035-115insTGT
XR_001744808.2:n.1811-116_1811-115insTGT
XR_242246.5:n.2831-116_2831-115insTGT
NM_000466.3:c.2784-116_2784-115insTGT MANE Select	NP_000457.1:n.2784-116_2784-115insTGT
NM_001282677.2:c.2613-116_2613-115insTGT	NP_001269606.1:n.2613-116_2613-115insTGT
NM_001282678.2:c.2160-116_2160-115insTGT	NP_001269607.1:n.2160-116_2160-115insTGT