Canonical Allele Identifier: CA2776945653

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92496859_92496860insACAT , CM000669.2:g.92496859_92496860insACAT	GRCh38
NC_000007.13:g.92126173_92126174insACAT , CM000669.1:g.92126173_92126174insACAT	GRCh37
NC_000007.12:g.91964109_91964110insACAT	NCBI36
NG_008341.1:g.36672_36673insATGT
NG_008341.2:g.36672_36673insATGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2719-83_2719-82insATGT MANE Select	ENSP00000248633.4:n.2719-83_2719-82insATGT
ENST00000248633.8:c.2719-83_2719-82insATGT	ENSP00000248633.4:n.2719-83_2719-82insATGT
ENST00000428214.5:c.2548-83_2548-82insATGT	ENSP00000394413.1:n.2548-83_2548-82insATGT
ENST00000438045.5:c.1753-83_1753-82insATGT	ENSP00000410438.1:n.1753-83_1753-82insATGT
ENST00000484913.5:n.2758-83_2758-82insATGT
ENST00000496420.5:n.2611-83_2611-82insATGT
NM_000466.2:c.2719-83_2719-82insATGT	NP_000457.1:n.2719-83_2719-82insATGT
NM_001282677.1:c.2548-83_2548-82insATGT	NP_001269606.1:n.2548-83_2548-82insATGT
NM_001282678.1:c.2095-83_2095-82insATGT	NP_001269607.1:n.2095-83_2095-82insATGT
XM_005250433.3:c.970-83_970-82insATGT	XP_005250490.1:n.970-83_970-82insATGT
XR_242246.3:n.2815-83_2815-82insATGT
XM_017012319.2:c.970-83_970-82insATGT	XP_016867808.1:n.970-83_970-82insATGT
XR_001744808.2:n.1746-83_1746-82insATGT
XR_242246.5:n.2766-83_2766-82insATGT
NM_000466.3:c.2719-83_2719-82insATGT MANE Select	NP_000457.1:n.2719-83_2719-82insATGT
NM_001282677.2:c.2548-83_2548-82insATGT	NP_001269606.1:n.2548-83_2548-82insATGT
NM_001282678.2:c.2095-83_2095-82insATGT	NP_001269607.1:n.2095-83_2095-82insATGT