Canonical Allele Identifier: CA2776946323

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92502184_92502185insA , CM000669.2:g.92502184_92502185insA	GRCh38
NC_000007.13:g.92131498_92131499insA , CM000669.1:g.92131498_92131499insA	GRCh37
NC_000007.12:g.91969434_91969435insA	NCBI36
NG_008341.1:g.31347_31348insT
NG_008341.2:g.31347_31348insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2227-106_2227-105insT MANE Select	ENSP00000248633.4:n.2227-106_2227-105insT
ENST00000248633.8:c.2227-106_2227-105insT	ENSP00000248633.4:n.2227-106_2227-105insT
ENST00000428214.5:c.2056-106_2056-105insT	ENSP00000394413.1:n.2056-106_2056-105insT
ENST00000438045.5:c.1261-106_1261-105insT	ENSP00000410438.1:n.1261-106_1261-105insT
ENST00000484913.5:n.2266-106_2266-105insT
ENST00000496092.1:n.25-106_25-105insT
ENST00000496420.5:n.1903-106_1903-105insT
NM_000466.2:c.2227-106_2227-105insT	NP_000457.1:n.2227-106_2227-105insT
NM_001282677.1:c.2056-106_2056-105insT	NP_001269606.1:n.2056-106_2056-105insT
NM_001282678.1:c.1603-106_1603-105insT	NP_001269607.1:n.1603-106_1603-105insT
XM_005250433.3:c.478-106_478-105insT	XP_005250490.1:n.478-106_478-105insT
XR_242246.3:n.2323-106_2323-105insT
XM_017012319.2:c.478-106_478-105insT	XP_016867808.1:n.478-106_478-105insT
XR_001744808.2:n.1254-106_1254-105insT
XR_242246.5:n.2274-106_2274-105insT
NM_000466.3:c.2227-106_2227-105insT MANE Select	NP_000457.1:n.2227-106_2227-105insT
NM_001282677.2:c.2056-106_2056-105insT	NP_001269606.1:n.2056-106_2056-105insT
NM_001282678.2:c.1603-106_1603-105insT	NP_001269607.1:n.1603-106_1603-105insT