Canonical Allele Identifier: CA3005626868

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92519014dup , CM000669.2:g.92519014dup	GRCh38
NC_000007.13:g.92148328dup , CM000669.1:g.92148328dup	GRCh37
NC_000007.12:g.91986264dup	NCBI36
NG_008341.1:g.14518dup
NG_008341.2:g.14518dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.338dup MANE Select	ENSP00000248633.4:p.Asp114ArgfsTer2
ENST00000248633.8:c.338dup	ENSP00000248633.4:p.Asp114ArgfsTer2
ENST00000428214.5:c.338dup	ENSP00000394413.1:p.Asp114ArgfsTer2
ENST00000438045.5:c.273+3088dup	ENSP00000410438.1:n.273+3088dup
ENST00000484913.5:n.342dup
NM_000466.2:c.338dup	NP_000457.1:p.Asp114ArgfsTer2
NM_001282677.1:c.338dup	NP_001269606.1:p.Asp114ArgfsTer2
NM_001282678.1:c.-322dup	NP_001269607.1:n.-322dup
XR_242246.3:n.434dup
XR_242246.5:n.385dup
NM_000466.3:c.338dup MANE Select	NP_000457.1:p.Asp114ArgfsTer2
NM_001282677.2:c.338dup	NP_001269606.1:p.Asp114ArgfsTer2
NM_001282678.2:c.-322dup	NP_001269607.1:n.-322dup