Canonical Allele Identifier: CA2776946302

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92502161_92502162insACAG , CM000669.2:g.92502161_92502162insACAG	GRCh38
NC_000007.13:g.92131475_92131476insACAG , CM000669.1:g.92131475_92131476insACAG	GRCh37
NC_000007.12:g.91969411_91969412insACAG	NCBI36
NG_008341.1:g.31370_31371insCTGT
NG_008341.2:g.31370_31371insCTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2227-83_2227-82insCTGT MANE Select	ENSP00000248633.4:n.2227-83_2227-82insCTGT
ENST00000248633.8:c.2227-83_2227-82insCTGT	ENSP00000248633.4:n.2227-83_2227-82insCTGT
ENST00000428214.5:c.2056-83_2056-82insCTGT	ENSP00000394413.1:n.2056-83_2056-82insCTGT
ENST00000438045.5:c.1261-83_1261-82insCTGT	ENSP00000410438.1:n.1261-83_1261-82insCTGT
ENST00000484913.5:n.2266-83_2266-82insCTGT
ENST00000496092.1:n.25-83_25-82insCTGT
ENST00000496420.5:n.1903-83_1903-82insCTGT
NM_000466.2:c.2227-83_2227-82insCTGT	NP_000457.1:n.2227-83_2227-82insCTGT
NM_001282677.1:c.2056-83_2056-82insCTGT	NP_001269606.1:n.2056-83_2056-82insCTGT
NM_001282678.1:c.1603-83_1603-82insCTGT	NP_001269607.1:n.1603-83_1603-82insCTGT
XM_005250433.3:c.478-83_478-82insCTGT	XP_005250490.1:n.478-83_478-82insCTGT
XR_242246.3:n.2323-83_2323-82insCTGT
XM_017012319.2:c.478-83_478-82insCTGT	XP_016867808.1:n.478-83_478-82insCTGT
XR_001744808.2:n.1254-83_1254-82insCTGT
XR_242246.5:n.2274-83_2274-82insCTGT
NM_000466.3:c.2227-83_2227-82insCTGT MANE Select	NP_000457.1:n.2227-83_2227-82insCTGT
NM_001282677.2:c.2056-83_2056-82insCTGT	NP_001269606.1:n.2056-83_2056-82insCTGT
NM_001282678.2:c.1603-83_1603-82insCTGT	NP_001269607.1:n.1603-83_1603-82insCTGT