Canonical Allele Identifier: CA576308169

Gene: PEX1

Linked Data

• dbSNP Id: rs1473091973
• gnomAD v2: 7-92147792-G-GT
• gnomAD v3: 7-92518478-G-GT
• gnomAD v4: 7-92518478-G-GT
• MyVariant Identifiers: chr7:g.92147792_92147793insT (hg19) ; chr7:g.92518478_92518479insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518479dup , CM000669.2:g.92518479dup	GRCh38
NC_000007.13:g.92147793dup , CM000669.1:g.92147793dup	GRCh37
NC_000007.12:g.91985729dup	NCBI36
NG_008341.1:g.15053dup
NG_008341.2:g.15053dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.358-224dup MANE Select	ENSP00000248633.4:n.358-224dup
ENST00000248633.8:c.358-224dup	ENSP00000248633.4:n.358-224dup
ENST00000428214.5:c.358-224dup	ENSP00000394413.1:n.358-224dup
ENST00000438045.5:c.273+3623dup	ENSP00000410438.1:n.273+3623dup
ENST00000484913.5:n.397-224dup
NM_000466.2:c.358-224dup	NP_000457.1:n.358-224dup
NM_001282677.1:c.358-224dup	NP_001269606.1:n.358-224dup
NM_001282678.1:c.-267-224dup	NP_001269607.1:n.-267-224dup
XR_242246.3:n.454-224dup
XR_242246.5:n.405-224dup
NM_000466.3:c.358-224dup MANE Select	NP_000457.1:n.358-224dup
NM_001282677.2:c.358-224dup	NP_001269606.1:n.358-224dup
NM_001282678.2:c.-267-224dup	NP_001269607.1:n.-267-224dup