Canonical Allele Identifier: CA161974388

Gene: PEX1

Linked Data

• dbSNP Id: rs568122920
• gnomAD v2: 7-92147890-C-CT
• gnomAD v3: 7-92518576-C-CT
• gnomAD v4: 7-92518576-C-CT
• MyVariant Identifiers: chr7:g.92147890_92147891insT (hg19) ; chr7:g.92518576_92518577insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518583dup , CM000669.2:g.92518583dup	GRCh38
NC_000007.13:g.92147897dup , CM000669.1:g.92147897dup	GRCh37
NC_000007.12:g.91985833dup	NCBI36
NG_008341.1:g.14955dup
NG_008341.2:g.14955dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.358-322dup MANE Select	ENSP00000248633.4:n.358-322dup
ENST00000248633.8:c.358-322dup	ENSP00000248633.4:n.358-322dup
ENST00000428214.5:c.358-322dup	ENSP00000394413.1:n.358-322dup
ENST00000438045.5:c.273+3525dup	ENSP00000410438.1:n.273+3525dup
ENST00000484913.5:n.397-322dup
NM_000466.2:c.358-322dup	NP_000457.1:n.358-322dup
NM_001282677.1:c.358-322dup	NP_001269606.1:n.358-322dup
NM_001282678.1:c.-267-322dup	NP_001269607.1:n.-267-322dup
XR_242246.3:n.454-322dup
XR_242246.5:n.405-322dup
NM_000466.3:c.358-322dup MANE Select	NP_000457.1:n.358-322dup
NM_001282677.2:c.358-322dup	NP_001269606.1:n.358-322dup
NM_001282678.2:c.-267-322dup	NP_001269607.1:n.-267-322dup