Canonical Allele Identifier: CA843847285

Gene: PEX1

Linked Data

• dbSNP Id: rs1231151991
• gnomAD v4: 7-92518323-AT-A
• MyVariant Identifiers: chr7:g.92147638del (hg19) ; chr7:g.92518324del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518324del , CM000669.2:g.92518324del	GRCh38
NC_000007.13:g.92147638del , CM000669.1:g.92147638del	GRCh37
NC_000007.12:g.91985574del	NCBI36
NG_008341.1:g.15208del
NG_008341.2:g.15208del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.358-69del MANE Select	ENSP00000248633.4:n.358-69del
ENST00000248633.8:c.358-69del	ENSP00000248633.4:n.358-69del
ENST00000428214.5:c.358-69del	ENSP00000394413.1:n.358-69del
ENST00000438045.5:c.273+3778del	ENSP00000410438.1:n.273+3778del
ENST00000484913.5:n.397-69del
NM_000466.2:c.358-69del	NP_000457.1:n.358-69del
NM_001282677.1:c.358-69del	NP_001269606.1:n.358-69del
NM_001282678.1:c.-267-69del	NP_001269607.1:n.-267-69del
XR_242246.3:n.454-69del
XR_242246.5:n.405-69del
NM_000466.3:c.358-69del MANE Select	NP_000457.1:n.358-69del
NM_001282677.2:c.358-69del	NP_001269606.1:n.358-69del
NM_001282678.2:c.-267-69del	NP_001269607.1:n.-267-69del