Canonical Allele Identifier: CA2683720742

Gene: PEX1

Linked Data

• gnomAD v4: 7-92518237-G-GAATTTTGACCTCTCT

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518237_92518238insAATTTTGACCTCTCT , CM000669.2:g.92518237_92518238insAATTTTGACCTCTCT	GRCh38
NC_000007.13:g.92147551_92147552insAATTTTGACCTCTCT , CM000669.1:g.92147551_92147552insAATTTTGACCTCTCT	GRCh37
NC_000007.12:g.91985487_91985488insAATTTTGACCTCTCT	NCBI36
NG_008341.1:g.15294_15295insAGAGAGGTCAAAATT
NG_008341.2:g.15294_15295insAGAGAGGTCAAAATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.375_376insAGAGAGGTCAAAATT MANE Select	ENSP00000248633.4:p.Ser125_Leu126insArgGluValLysIle
ENST00000248633.8:c.375_376insAGAGAGGTCAAAATT	ENSP00000248633.4:p.Ser125_Leu126insArgGluValLysIle
ENST00000428214.5:c.375_376insAGAGAGGTCAAAATT	ENSP00000394413.1:p.Ser125_Leu126insArgGluValLysIle
ENST00000438045.5:c.273+3864_273+3865insAGAGAGGTCAAAATT	ENSP00000410438.1:n.273+3864_273+3865insAGAGAGGTCAAAATT
ENST00000484913.5:n.414_415insAGAGAGGTCAAAATT
NM_000466.2:c.375_376insAGAGAGGTCAAAATT	NP_000457.1:p.Ser125_Leu126insArgGluValLysIle
NM_001282677.1:c.375_376insAGAGAGGTCAAAATT	NP_001269606.1:p.Ser125_Leu126insArgGluValLysIle
NM_001282678.1:c.-250_-249insAGAGAGGTCAAAATT	NP_001269607.1:n.-250_-249insAGAGAGGTCAAAATT
XR_242246.3:n.471_472insAGAGAGGTCAAAATT
XR_242246.5:n.422_423insAGAGAGGTCAAAATT
NM_000466.3:c.375_376insAGAGAGGTCAAAATT MANE Select	NP_000457.1:p.Ser125_Leu126insArgGluValLysIle
NM_001282677.2:c.375_376insAGAGAGGTCAAAATT	NP_001269606.1:p.Ser125_Leu126insArgGluValLysIle
NM_001282678.2:c.-250_-249insAGAGAGGTCAAAATT	NP_001269607.1:n.-250_-249insAGAGAGGTCAAAATT