Canonical Allele Identifier: CA2776946056

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494714_92494715insACAG , CM000669.2:g.92494714_92494715insACAG	GRCh38
NC_000007.13:g.92124028_92124029insACAG , CM000669.1:g.92124028_92124029insACAG	GRCh37
NC_000007.12:g.91961964_91961965insACAG	NCBI36
NG_008341.1:g.38817_38818insCTGT
NG_008341.2:g.38817_38818insCTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2784-86_2784-85insCTGT MANE Select	ENSP00000248633.4:n.2784-86_2784-85insCTGT
ENST00000248633.8:c.2784-86_2784-85insCTGT	ENSP00000248633.4:n.2784-86_2784-85insCTGT
ENST00000428214.5:c.2613-86_2613-85insCTGT	ENSP00000394413.1:n.2613-86_2613-85insCTGT
ENST00000438045.5:c.1818-86_1818-85insCTGT	ENSP00000410438.1:n.1818-86_1818-85insCTGT
ENST00000484913.5:n.2823-86_2823-85insCTGT
ENST00000496420.5:n.2676-86_2676-85insCTGT
NM_000466.2:c.2784-86_2784-85insCTGT	NP_000457.1:n.2784-86_2784-85insCTGT
NM_001282677.1:c.2613-86_2613-85insCTGT	NP_001269606.1:n.2613-86_2613-85insCTGT
NM_001282678.1:c.2160-86_2160-85insCTGT	NP_001269607.1:n.2160-86_2160-85insCTGT
XM_005250433.3:c.1035-86_1035-85insCTGT	XP_005250490.1:n.1035-86_1035-85insCTGT
XR_242246.3:n.2880-86_2880-85insCTGT
XM_017012319.2:c.1035-86_1035-85insCTGT	XP_016867808.1:n.1035-86_1035-85insCTGT
XR_001744808.2:n.1811-86_1811-85insCTGT
XR_242246.5:n.2831-86_2831-85insCTGT
NM_000466.3:c.2784-86_2784-85insCTGT MANE Select	NP_000457.1:n.2784-86_2784-85insCTGT
NM_001282677.2:c.2613-86_2613-85insCTGT	NP_001269606.1:n.2613-86_2613-85insCTGT
NM_001282678.2:c.2160-86_2160-85insCTGT	NP_001269607.1:n.2160-86_2160-85insCTGT