Canonical Allele Identifier: CA2776946296

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92502151_92502152insC , CM000669.2:g.92502151_92502152insC	GRCh38
NC_000007.13:g.92131465_92131466insC , CM000669.1:g.92131465_92131466insC	GRCh37
NC_000007.12:g.91969401_91969402insC	NCBI36
NG_008341.1:g.31380_31381insG
NG_008341.2:g.31380_31381insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2227-73_2227-72insG MANE Select	ENSP00000248633.4:n.2227-73_2227-72insG
ENST00000248633.8:c.2227-73_2227-72insG	ENSP00000248633.4:n.2227-73_2227-72insG
ENST00000428214.5:c.2056-73_2056-72insG	ENSP00000394413.1:n.2056-73_2056-72insG
ENST00000438045.5:c.1261-73_1261-72insG	ENSP00000410438.1:n.1261-73_1261-72insG
ENST00000484913.5:n.2266-73_2266-72insG
ENST00000496092.1:n.25-73_25-72insG
ENST00000496420.5:n.1903-73_1903-72insG
NM_000466.2:c.2227-73_2227-72insG	NP_000457.1:n.2227-73_2227-72insG
NM_001282677.1:c.2056-73_2056-72insG	NP_001269606.1:n.2056-73_2056-72insG
NM_001282678.1:c.1603-73_1603-72insG	NP_001269607.1:n.1603-73_1603-72insG
XM_005250433.3:c.478-73_478-72insG	XP_005250490.1:n.478-73_478-72insG
XR_242246.3:n.2323-73_2323-72insG
XM_017012319.2:c.478-73_478-72insG	XP_016867808.1:n.478-73_478-72insG
XR_001744808.2:n.1254-73_1254-72insG
XR_242246.5:n.2274-73_2274-72insG
NM_000466.3:c.2227-73_2227-72insG MANE Select	NP_000457.1:n.2227-73_2227-72insG
NM_001282677.2:c.2056-73_2056-72insG	NP_001269606.1:n.2056-73_2056-72insG
NM_001282678.2:c.1603-73_1603-72insG	NP_001269607.1:n.1603-73_1603-72insG