Canonical Allele Identifier: CA2776946244

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92502083_92502084insGTC , CM000669.2:g.92502083_92502084insGTC	GRCh38
NC_000007.13:g.92131397_92131398insGTC , CM000669.1:g.92131397_92131398insGTC	GRCh37
NC_000007.12:g.91969333_91969334insGTC	NCBI36
NG_008341.1:g.31448_31449insGAC
NG_008341.2:g.31448_31449insGAC

Transcript Alleles

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