Canonical Allele Identifier: CA2573142561

Gene: PEX1

Linked Data

• dbSNP Id: rs2116253345
• gnomAD v4: 7-92519046-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92519047del , CM000669.2:g.92519047del	GRCh38
NC_000007.13:g.92148361del , CM000669.1:g.92148361del	GRCh37
NC_000007.12:g.91986297del	NCBI36
NG_008341.1:g.14485del
NG_008341.2:g.14485del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.305del MANE Select	ENSP00000248633.4:p.Ser102PhefsTer30
ENST00000248633.8:c.305del	ENSP00000248633.4:p.Ser102PhefsTer30
ENST00000428214.5:c.305del	ENSP00000394413.1:p.Ser102PhefsTer30
ENST00000438045.5:c.273+3055del	ENSP00000410438.1:n.273+3055del
ENST00000484913.5:n.309del
NM_000466.2:c.305del	NP_000457.1:p.Ser102PhefsTer30
NM_001282677.1:c.305del	NP_001269606.1:p.Ser102PhefsTer30
NM_001282678.1:c.-355del	NP_001269607.1:n.-355del
XR_242246.3:n.401del
XR_242246.5:n.352del
NM_000466.3:c.305del MANE Select	NP_000457.1:p.Ser102PhefsTer30
NM_001282677.2:c.305del	NP_001269606.1:p.Ser102PhefsTer30
NM_001282678.2:c.-355del	NP_001269607.1:n.-355del