Canonical Allele Identifier: CA843847393

Gene: PEX1

Linked Data

• dbSNP Id: rs1270815636
• gnomAD v3: 7-92518564-T-TATCAATTCA
• gnomAD v4: 7-92518564-T-TATCAATTCA
• MyVariant Identifiers: chr7:g.92147878_92147879insATCAATTCA (hg19) ; chr7:g.92518564_92518565insATCAATTCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518565_92518573dup , CM000669.2:g.92518565_92518573dup	GRCh38
NC_000007.13:g.92147879_92147887dup , CM000669.1:g.92147879_92147887dup	GRCh37
NC_000007.12:g.91985815_91985823dup	NCBI36
NG_008341.1:g.14959_14967dup
NG_008341.2:g.14959_14967dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.358-318_358-310dup MANE Select	ENSP00000248633.4:n.358-318_358-310dup
ENST00000248633.8:c.358-318_358-310dup	ENSP00000248633.4:n.358-318_358-310dup
ENST00000428214.5:c.358-318_358-310dup	ENSP00000394413.1:n.358-318_358-310dup
ENST00000438045.5:c.273+3529_273+3537dup	ENSP00000410438.1:n.273+3529_273+3537dup
ENST00000484913.5:n.397-318_397-310dup
NM_000466.2:c.358-318_358-310dup	NP_000457.1:n.358-318_358-310dup
NM_001282677.1:c.358-318_358-310dup	NP_001269606.1:n.358-318_358-310dup
NM_001282678.1:c.-267-318_-267-310dup	NP_001269607.1:n.-267-318_-267-310dup
XR_242246.3:n.454-318_454-310dup
XR_242246.5:n.405-318_405-310dup
NM_000466.3:c.358-318_358-310dup MANE Select	NP_000457.1:n.358-318_358-310dup
NM_001282677.2:c.358-318_358-310dup	NP_001269606.1:n.358-318_358-310dup
NM_001282678.2:c.-267-318_-267-310dup	NP_001269607.1:n.-267-318_-267-310dup