Canonical Allele Identifier: CA1725933385

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92496765_92496766delinsGT , CM000669.2:g.92496765_92496766delinsGT	GRCh38
NC_000007.13:g.92126079_92126080delinsGT , CM000669.1:g.92126079_92126080delinsGT	GRCh37
NC_000007.12:g.91964015_91964016delinsGT	NCBI36
NG_008341.1:g.36766_36767delinsAC
NG_008341.2:g.36766_36767delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2730_2731delinsAC MANE Select	ENSP00000248633.4:p.Leu910=
ENST00000248633.8:c.2730_2731delinsAC	ENSP00000248633.4:p.Leu910=
ENST00000428214.5:c.2559_2560delinsAC	ENSP00000394413.1:p.Leu853=
ENST00000438045.5:c.1764_1765delinsAC	ENSP00000410438.1:p.Leu588=
ENST00000484913.5:n.2769_2770delinsAC
ENST00000496420.5:n.2622_2623delinsAC
NM_000466.2:c.2730_2731delinsAC	NP_000457.1:p.Leu910=
NM_001282677.1:c.2559_2560delinsAC	NP_001269606.1:p.Leu853=
NM_001282678.1:c.2106_2107delinsAC	NP_001269607.1:p.Leu702=
XM_005250433.3:c.981_982delinsAC	XP_005250490.1:p.Leu327=
XR_242246.3:n.2826_2827delinsAC
XM_017012319.2:c.981_982delinsAC	XP_016867808.1:p.Leu327=
XR_001744808.2:n.1757_1758delinsAC
XR_242246.5:n.2777_2778delinsAC
NM_000466.3:c.2730_2731delinsAC MANE Select	NP_000457.1:p.Leu910=
NM_001282677.2:c.2559_2560delinsAC	NP_001269606.1:p.Leu853=
NM_001282678.2:c.2106_2107delinsAC	NP_001269607.1:p.Leu702=