Canonical Allele Identifier: CA843847133

Gene: PEX1

Linked Data

• dbSNP Id: rs1460346048
• MyVariant Identifiers: chr7:g.92147519_92147520del (hg19) ; chr7:g.92518205_92518206del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518206_92518207del , CM000669.2:g.92518206_92518207del	GRCh38
NC_000007.13:g.92147520_92147521del , CM000669.1:g.92147520_92147521del	GRCh37
NC_000007.12:g.91985456_91985457del	NCBI36
NG_008341.1:g.15326_15327del
NG_008341.2:g.15326_15327del

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.407_408del MANE Select	ENSP00000248633.4:p.Ile136SerfsTer12
ENST00000248633.8:c.407_408del	ENSP00000248633.4:p.Ile136SerfsTer12
ENST00000428214.5:c.407_408del	ENSP00000394413.1:p.Ile136SerfsTer12
ENST00000438045.5:c.273+3896_273+3897del	ENSP00000410438.1:n.273+3896_273+3897del
ENST00000484913.5:n.446_447del
NM_000466.2:c.407_408del	NP_000457.1:p.Ile136SerfsTer12
NM_001282677.1:c.407_408del	NP_001269606.1:p.Ile136SerfsTer12
NM_001282678.1:c.-218_-217del	NP_001269607.1:n.-218_-217del
XR_242246.3:n.503_504del
XR_242246.5:n.454_455del
NM_000466.3:c.407_408del MANE Select	NP_000457.1:p.Ile136SerfsTer12
NM_001282677.2:c.407_408del	NP_001269606.1:p.Ile136SerfsTer12
NM_001282678.2:c.-218_-217del	NP_001269607.1:n.-218_-217del