Canonical Allele Identifier: CA2776946277

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92502131_92502132insAG , CM000669.2:g.92502131_92502132insAG	GRCh38
NC_000007.13:g.92131445_92131446insAG , CM000669.1:g.92131445_92131446insAG	GRCh37
NC_000007.12:g.91969381_91969382insAG	NCBI36
NG_008341.1:g.31400_31401insCT
NG_008341.2:g.31400_31401insCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2227-53_2227-52insCT MANE Select	ENSP00000248633.4:n.2227-53_2227-52insCT
ENST00000248633.8:c.2227-53_2227-52insCT	ENSP00000248633.4:n.2227-53_2227-52insCT
ENST00000428214.5:c.2056-53_2056-52insCT	ENSP00000394413.1:n.2056-53_2056-52insCT
ENST00000438045.5:c.1261-53_1261-52insCT	ENSP00000410438.1:n.1261-53_1261-52insCT
ENST00000484913.5:n.2266-53_2266-52insCT
ENST00000496092.1:n.25-53_25-52insCT
ENST00000496420.5:n.1903-53_1903-52insCT
NM_000466.2:c.2227-53_2227-52insCT	NP_000457.1:n.2227-53_2227-52insCT
NM_001282677.1:c.2056-53_2056-52insCT	NP_001269606.1:n.2056-53_2056-52insCT
NM_001282678.1:c.1603-53_1603-52insCT	NP_001269607.1:n.1603-53_1603-52insCT
XM_005250433.3:c.478-53_478-52insCT	XP_005250490.1:n.478-53_478-52insCT
XR_242246.3:n.2323-53_2323-52insCT
XM_017012319.2:c.478-53_478-52insCT	XP_016867808.1:n.478-53_478-52insCT
XR_001744808.2:n.1254-53_1254-52insCT
XR_242246.5:n.2274-53_2274-52insCT
NM_000466.3:c.2227-53_2227-52insCT MANE Select	NP_000457.1:n.2227-53_2227-52insCT
NM_001282677.2:c.2056-53_2056-52insCT	NP_001269606.1:n.2056-53_2056-52insCT
NM_001282678.2:c.1603-53_1603-52insCT	NP_001269607.1:n.1603-53_1603-52insCT