Canonical Allele Identifier: CA2776946258

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92502114_92502115insA , CM000669.2:g.92502114_92502115insA	GRCh38
NC_000007.13:g.92131428_92131429insA , CM000669.1:g.92131428_92131429insA	GRCh37
NC_000007.12:g.91969364_91969365insA	NCBI36
NG_008341.1:g.31417_31418insT
NG_008341.2:g.31417_31418insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2227-36_2227-35insT MANE Select	ENSP00000248633.4:n.2227-36_2227-35insT
ENST00000248633.8:c.2227-36_2227-35insT	ENSP00000248633.4:n.2227-36_2227-35insT
ENST00000428214.5:c.2056-36_2056-35insT	ENSP00000394413.1:n.2056-36_2056-35insT
ENST00000438045.5:c.1261-36_1261-35insT	ENSP00000410438.1:n.1261-36_1261-35insT
ENST00000484913.5:n.2266-36_2266-35insT
ENST00000496092.1:n.25-36_25-35insT
ENST00000496420.5:n.1903-36_1903-35insT
NM_000466.2:c.2227-36_2227-35insT	NP_000457.1:n.2227-36_2227-35insT
NM_001282677.1:c.2056-36_2056-35insT	NP_001269606.1:n.2056-36_2056-35insT
NM_001282678.1:c.1603-36_1603-35insT	NP_001269607.1:n.1603-36_1603-35insT
XM_005250433.3:c.478-36_478-35insT	XP_005250490.1:n.478-36_478-35insT
XR_242246.3:n.2323-36_2323-35insT
XM_017012319.2:c.478-36_478-35insT	XP_016867808.1:n.478-36_478-35insT
XR_001744808.2:n.1254-36_1254-35insT
XR_242246.5:n.2274-36_2274-35insT
NM_000466.3:c.2227-36_2227-35insT MANE Select	NP_000457.1:n.2227-36_2227-35insT
NM_001282677.2:c.2056-36_2056-35insT	NP_001269606.1:n.2056-36_2056-35insT
NM_001282678.2:c.1603-36_1603-35insT	NP_001269607.1:n.1603-36_1603-35insT