Canonical Allele Identifier: CA2683718333

Gene: PEX1

Linked Data

• gnomAD v4: 7-92502195-G-GGCACAATA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92502195_92502196insGCACAATA , CM000669.2:g.92502195_92502196insGCACAATA	GRCh38
NC_000007.13:g.92131509_92131510insGCACAATA , CM000669.1:g.92131509_92131510insGCACAATA	GRCh37
NC_000007.12:g.91969445_91969446insGCACAATA	NCBI36
NG_008341.1:g.31336_31337insTATTGTGC
NG_008341.2:g.31336_31337insTATTGTGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2227-117_2227-116insTATTGTGC MANE Select	ENSP00000248633.4:n.2227-117_2227-116insTATTGTGC
ENST00000248633.8:c.2227-117_2227-116insTATTGTGC	ENSP00000248633.4:n.2227-117_2227-116insTATTGTGC
ENST00000428214.5:c.2056-117_2056-116insTATTGTGC	ENSP00000394413.1:n.2056-117_2056-116insTATTGTGC
ENST00000438045.5:c.1261-117_1261-116insTATTGTGC	ENSP00000410438.1:n.1261-117_1261-116insTATTGTGC
ENST00000484913.5:n.2266-117_2266-116insTATTGTGC
ENST00000496092.1:n.25-117_25-116insTATTGTGC
ENST00000496420.5:n.1903-117_1903-116insTATTGTGC
NM_000466.2:c.2227-117_2227-116insTATTGTGC	NP_000457.1:n.2227-117_2227-116insTATTGTGC
NM_001282677.1:c.2056-117_2056-116insTATTGTGC	NP_001269606.1:n.2056-117_2056-116insTATTGTGC
NM_001282678.1:c.1603-117_1603-116insTATTGTGC	NP_001269607.1:n.1603-117_1603-116insTATTGTGC
XM_005250433.3:c.478-117_478-116insTATTGTGC	XP_005250490.1:n.478-117_478-116insTATTGTGC
XR_242246.3:n.2323-117_2323-116insTATTGTGC
XM_017012319.2:c.478-117_478-116insTATTGTGC	XP_016867808.1:n.478-117_478-116insTATTGTGC
XR_001744808.2:n.1254-117_1254-116insTATTGTGC
XR_242246.5:n.2274-117_2274-116insTATTGTGC
NM_000466.3:c.2227-117_2227-116insTATTGTGC MANE Select	NP_000457.1:n.2227-117_2227-116insTATTGTGC
NM_001282677.2:c.2056-117_2056-116insTATTGTGC	NP_001269606.1:n.2056-117_2056-116insTATTGTGC
NM_001282678.2:c.1603-117_1603-116insTATTGTGC	NP_001269607.1:n.1603-117_1603-116insTATTGTGC