Canonical Allele Identifier: CA2776945650

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92496855_92496856insGT , CM000669.2:g.92496855_92496856insGT	GRCh38
NC_000007.13:g.92126169_92126170insGT , CM000669.1:g.92126169_92126170insGT	GRCh37
NC_000007.12:g.91964105_91964106insGT	NCBI36
NG_008341.1:g.36676_36677insAC
NG_008341.2:g.36676_36677insAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2719-79_2719-78insAC MANE Select	ENSP00000248633.4:n.2719-79_2719-78insAC
ENST00000248633.8:c.2719-79_2719-78insAC	ENSP00000248633.4:n.2719-79_2719-78insAC
ENST00000428214.5:c.2548-79_2548-78insAC	ENSP00000394413.1:n.2548-79_2548-78insAC
ENST00000438045.5:c.1753-79_1753-78insAC	ENSP00000410438.1:n.1753-79_1753-78insAC
ENST00000484913.5:n.2758-79_2758-78insAC
ENST00000496420.5:n.2611-79_2611-78insAC
NM_000466.2:c.2719-79_2719-78insAC	NP_000457.1:n.2719-79_2719-78insAC
NM_001282677.1:c.2548-79_2548-78insAC	NP_001269606.1:n.2548-79_2548-78insAC
NM_001282678.1:c.2095-79_2095-78insAC	NP_001269607.1:n.2095-79_2095-78insAC
XM_005250433.3:c.970-79_970-78insAC	XP_005250490.1:n.970-79_970-78insAC
XR_242246.3:n.2815-79_2815-78insAC
XM_017012319.2:c.970-79_970-78insAC	XP_016867808.1:n.970-79_970-78insAC
XR_001744808.2:n.1746-79_1746-78insAC
XR_242246.5:n.2766-79_2766-78insAC
NM_000466.3:c.2719-79_2719-78insAC MANE Select	NP_000457.1:n.2719-79_2719-78insAC
NM_001282677.2:c.2548-79_2548-78insAC	NP_001269606.1:n.2548-79_2548-78insAC
NM_001282678.2:c.2095-79_2095-78insAC	NP_001269607.1:n.2095-79_2095-78insAC