Canonical Allele Identifier: CA576706658

Gene: PEX1

Linked Data

• dbSNP Id: rs1562867209
• gnomAD v2: 7-92147409-A-ATGC
• gnomAD v3: 7-92518095-A-ATGC
• gnomAD v4: 7-92518095-A-ATGC
• MyVariant Identifiers: chr7:g.92147409_92147410insTGC (hg19) ; chr7:g.92518095_92518096insTGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518097_92518099dup , CM000669.2:g.92518097_92518099dup	GRCh38
NC_000007.13:g.92147411_92147413dup , CM000669.1:g.92147411_92147413dup	GRCh37
NC_000007.12:g.91985347_91985349dup	NCBI36
NG_008341.1:g.15434_15436dup
NG_008341.2:g.15434_15436dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.472+43_472+45dup MANE Select	ENSP00000248633.4:n.472+43_472+45dup
ENST00000248633.8:c.472+43_472+45dup	ENSP00000248633.4:n.472+43_472+45dup
ENST00000428214.5:c.472+43_472+45dup	ENSP00000394413.1:n.472+43_472+45dup
ENST00000438045.5:c.273+4004_273+4006dup	ENSP00000410438.1:n.273+4004_273+4006dup
ENST00000484913.5:n.511+43_511+45dup
NM_000466.2:c.472+43_472+45dup	NP_000457.1:n.472+43_472+45dup
NM_001282677.1:c.472+43_472+45dup	NP_001269606.1:n.472+43_472+45dup
NM_001282678.1:c.-153+43_-153+45dup	NP_001269607.1:n.-153+43_-153+45dup
XR_242246.3:n.568+43_568+45dup
XR_242246.5:n.519+43_519+45dup
NM_000466.3:c.472+43_472+45dup MANE Select	NP_000457.1:n.472+43_472+45dup
NM_001282677.2:c.472+43_472+45dup	NP_001269606.1:n.472+43_472+45dup
NM_001282678.2:c.-153+43_-153+45dup	NP_001269607.1:n.-153+43_-153+45dup