Canonical Allele Identifier: CA2573142560

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1562986
• ClinVar RCV Id: RCV002216262

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518274_92518275delinsTT , CM000669.2:g.92518274_92518275delinsTT	GRCh38
NC_000007.13:g.92147588_92147589delinsTT , CM000669.1:g.92147588_92147589delinsTT	GRCh37
NC_000007.12:g.91985524_91985525delinsTT	NCBI36
NG_008341.1:g.15257_15258delinsAA
NG_008341.2:g.15257_15258delinsAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.358-20_358-19delinsAA MANE Select	ENSP00000248633.4:n.358-20_358-19delinsAA...
ENST00000248633.8:c.358-20_358-19delinsAA	ENSP00000248633.4:n.358-20_358-19delinsAA...
ENST00000428214.5:c.358-20_358-19delinsAA	ENSP00000394413.1:n.358-20_358-19delinsAA...
ENST00000438045.5:c.273+3827_273+3828delinsAA	ENSP00000410438.1:n.273+3827_273+3828deli...
ENST00000484913.5:n.397-20_397-19delinsAA
NM_000466.2:c.358-20_358-19delinsAA	NP_000457.1:n.358-20_358-19delinsAA
NM_001282677.1:c.358-20_358-19delinsAA	NP_001269606.1:n.358-20_358-19delinsAA
NM_001282678.1:c.-267-20_-267-19delinsAA	NP_001269607.1:n.-267-20_-267-19delinsAA
XR_242246.3:n.454-20_454-19delinsAA
XR_242246.5:n.405-20_405-19delinsAA
NM_000466.3:c.358-20_358-19delinsAA MANE Select	NP_000457.1:n.358-20_358-19delinsAA
NM_001282677.2:c.358-20_358-19delinsAA	NP_001269606.1:n.358-20_358-19delinsAA
NM_001282678.2:c.-267-20_-267-19delinsAA	NP_001269607.1:n.-267-20_-267-19delinsAA