Canonical Allele Identifier: CA2776946313

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92502171_92502172insC , CM000669.2:g.92502171_92502172insC	GRCh38
NC_000007.13:g.92131485_92131486insC , CM000669.1:g.92131485_92131486insC	GRCh37
NC_000007.12:g.91969421_91969422insC	NCBI36
NG_008341.1:g.31360_31361insG
NG_008341.2:g.31360_31361insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2227-93_2227-92insG MANE Select	ENSP00000248633.4:n.2227-93_2227-92insG
ENST00000248633.8:c.2227-93_2227-92insG	ENSP00000248633.4:n.2227-93_2227-92insG
ENST00000428214.5:c.2056-93_2056-92insG	ENSP00000394413.1:n.2056-93_2056-92insG
ENST00000438045.5:c.1261-93_1261-92insG	ENSP00000410438.1:n.1261-93_1261-92insG
ENST00000484913.5:n.2266-93_2266-92insG
ENST00000496092.1:n.25-93_25-92insG
ENST00000496420.5:n.1903-93_1903-92insG
NM_000466.2:c.2227-93_2227-92insG	NP_000457.1:n.2227-93_2227-92insG
NM_001282677.1:c.2056-93_2056-92insG	NP_001269606.1:n.2056-93_2056-92insG
NM_001282678.1:c.1603-93_1603-92insG	NP_001269607.1:n.1603-93_1603-92insG
XM_005250433.3:c.478-93_478-92insG	XP_005250490.1:n.478-93_478-92insG
XR_242246.3:n.2323-93_2323-92insG
XM_017012319.2:c.478-93_478-92insG	XP_016867808.1:n.478-93_478-92insG
XR_001744808.2:n.1254-93_1254-92insG
XR_242246.5:n.2274-93_2274-92insG
NM_000466.3:c.2227-93_2227-92insG MANE Select	NP_000457.1:n.2227-93_2227-92insG
NM_001282677.2:c.2056-93_2056-92insG	NP_001269606.1:n.2056-93_2056-92insG
NM_001282678.2:c.1603-93_1603-92insG	NP_001269607.1:n.1603-93_1603-92insG