Canonical Allele Identifier: CA161974100

Gene: PEX1

Linked Data

• dbSNP Id: rs62653598

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518165_92518179delinsTTGC , CM000669.2:g.92518165_92518179delinsTTGC	GRCh38
NC_000007.13:g.92147479_92147493delinsTTGC , CM000669.1:g.92147479_92147493delinsTTGC	GRCh37
NC_000007.12:g.91985415_91985429delinsTTGC	NCBI36
NG_008341.1:g.15353_15367delinsGCAA
NG_008341.2:g.15353_15367delinsGCAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.434_448delinsGCAA MANE Select	ENSP00000248633.4:p.Val145GlyfsTer24
ENST00000248633.8:c.434_448delinsGCAA	ENSP00000248633.4:p.Val145GlyfsTer24
ENST00000428214.5:c.434_448delinsGCAA	ENSP00000394413.1:p.Val145GlyfsTer24
ENST00000438045.5:c.273+3923_273+3937delinsGCAA	ENSP00000410438.1:n.273+3923_273+3937deli...
ENST00000484913.5:n.473_487delinsGCAA
NM_000466.2:c.434_448delinsGCAA	NP_000457.1:p.Val145GlyfsTer24
NM_001282677.1:c.434_448delinsGCAA	NP_001269606.1:p.Val145GlyfsTer24
NM_001282678.1:c.-191_-177delinsGCAA	NP_001269607.1:n.-191_-177delinsGCAA
XR_242246.3:n.530_544delinsGCAA
XR_242246.5:n.481_495delinsGCAA
NM_000466.3:c.434_448delinsGCAA MANE Select	NP_000457.1:p.Val145GlyfsTer24
NM_001282677.2:c.434_448delinsGCAA	NP_001269606.1:p.Val145GlyfsTer24
NM_001282678.2:c.-191_-177delinsGCAA	NP_001269607.1:n.-191_-177delinsGCAA