Canonical Allele Identifier: CA2683719980

Gene: PEX1

Linked Data

• gnomAD v4: 7-92517301-T-TCTA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517303_92517305dup , CM000669.2:g.92517303_92517305dup	GRCh38
NC_000007.13:g.92146617_92146619dup , CM000669.1:g.92146617_92146619dup	GRCh37
NC_000007.12:g.91984553_91984555dup	NCBI36
NG_008341.1:g.16228_16230dup
NG_008341.2:g.16228_16230dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1211_1213dup MANE Select	ENSP00000248633.4:p.Val404_Glu405insVal
ENST00000248633.8:c.1211_1213dup	ENSP00000248633.4:p.Val404_Glu405insVal
ENST00000422866.1:c.112_114dup
ENST00000428214.5:c.1211_1213dup	ENSP00000394413.1:p.Val404_Glu405insVal
ENST00000438045.5:c.274-3337_274-3335dup	ENSP00000410438.1:n.274-3337_274-3335dup
ENST00000484913.5:n.1250_1252dup
NM_000466.2:c.1211_1213dup	NP_000457.1:p.Val404_Glu405insVal
NM_001282677.1:c.1211_1213dup	NP_001269606.1:p.Val404_Glu405insVal
NM_001282678.1:c.587_589dup	NP_001269607.1:p.Val196_Glu197insVal
XR_242246.3:n.1307_1309dup
XM_017012319.2:c.-456_-454dup	XP_016867808.1:n.-456_-454dup
XR_001744808.2:n.321_323dup
XR_242246.5:n.1258_1260dup
NM_000466.3:c.1211_1213dup MANE Select	NP_000457.1:p.Val404_Glu405insVal
NM_001282677.2:c.1211_1213dup	NP_001269606.1:p.Val404_Glu405insVal
NM_001282678.2:c.587_589dup	NP_001269607.1:p.Val196_Glu197insVal