Canonical Allele Identifier: CA2776946269

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92502124_92502125insAGA , CM000669.2:g.92502124_92502125insAGA	GRCh38
NC_000007.13:g.92131438_92131439insAGA , CM000669.1:g.92131438_92131439insAGA	GRCh37
NC_000007.12:g.91969374_91969375insAGA	NCBI36
NG_008341.1:g.31407_31408insTCT
NG_008341.2:g.31407_31408insTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2227-46_2227-45insTCT MANE Select	ENSP00000248633.4:n.2227-46_2227-45insTCT
ENST00000248633.8:c.2227-46_2227-45insTCT	ENSP00000248633.4:n.2227-46_2227-45insTCT
ENST00000428214.5:c.2056-46_2056-45insTCT	ENSP00000394413.1:n.2056-46_2056-45insTCT
ENST00000438045.5:c.1261-46_1261-45insTCT	ENSP00000410438.1:n.1261-46_1261-45insTCT
ENST00000484913.5:n.2266-46_2266-45insTCT
ENST00000496092.1:n.25-46_25-45insTCT
ENST00000496420.5:n.1903-46_1903-45insTCT
NM_000466.2:c.2227-46_2227-45insTCT	NP_000457.1:n.2227-46_2227-45insTCT
NM_001282677.1:c.2056-46_2056-45insTCT	NP_001269606.1:n.2056-46_2056-45insTCT
NM_001282678.1:c.1603-46_1603-45insTCT	NP_001269607.1:n.1603-46_1603-45insTCT
XM_005250433.3:c.478-46_478-45insTCT	XP_005250490.1:n.478-46_478-45insTCT
XR_242246.3:n.2323-46_2323-45insTCT
XM_017012319.2:c.478-46_478-45insTCT	XP_016867808.1:n.478-46_478-45insTCT
XR_001744808.2:n.1254-46_1254-45insTCT
XR_242246.5:n.2274-46_2274-45insTCT
NM_000466.3:c.2227-46_2227-45insTCT MANE Select	NP_000457.1:n.2227-46_2227-45insTCT
NM_001282677.2:c.2056-46_2056-45insTCT	NP_001269606.1:n.2056-46_2056-45insTCT
NM_001282678.2:c.1603-46_1603-45insTCT	NP_001269607.1:n.1603-46_1603-45insTCT