Canonical Allele Identifier: CA843849493

Gene: PEX1

Linked Data

• dbSNP Id: rs1330639198
• MyVariant Identifiers: chr7:g.92151630_92151632del (hg19) ; chr7:g.92522316_92522318del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92522321_92522323del , CM000669.2:g.92522321_92522323del	GRCh38
NC_000007.13:g.92151635_92151637del , CM000669.1:g.92151635_92151637del	GRCh37
NC_000007.12:g.91989571_91989573del	NCBI36
NG_008341.1:g.11214_11216del
NG_008341.2:g.11214_11216del

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.130-73_130-71del MANE Select	ENSP00000248633.4:n.130-73_130-71del
ENST00000248633.8:c.130-73_130-71del	ENSP00000248633.4:n.130-73_130-71del
ENST00000428214.5:c.130-73_130-71del	ENSP00000394413.1:n.130-73_130-71del
ENST00000438045.5:c.130-73_130-71del	ENSP00000410438.1:n.130-73_130-71del
ENST00000484913.5:n.134-73_134-71del
NM_000466.2:c.130-73_130-71del	NP_000457.1:n.130-73_130-71del
NM_001282677.1:c.130-73_130-71del	NP_001269606.1:n.130-73_130-71del
NM_001282678.1:c.-530-73_-530-71del	NP_001269607.1:n.-530-73_-530-71del
XR_242246.3:n.226-73_226-71del
XR_242246.5:n.177-73_177-71del
NM_000466.3:c.130-73_130-71del MANE Select	NP_000457.1:n.130-73_130-71del
NM_001282677.2:c.130-73_130-71del	NP_001269606.1:n.130-73_130-71del
NM_001282678.2:c.-530-73_-530-71del	NP_001269607.1:n.-530-73_-530-71del