Canonical Allele Identifier: CA2740865256

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518028_92518031del , CM000669.2:g.92518028_92518031del	GRCh38
NC_000007.13:g.92147342_92147345del , CM000669.1:g.92147342_92147345del	GRCh37
NC_000007.12:g.91985278_91985281del	NCBI36
NG_008341.1:g.15502_15505del
NG_008341.2:g.15502_15505del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.485_488del MANE Select	ENSP00000248633.4:p.Pro162LeufsTer?
ENST00000248633.8:c.485_488del	ENSP00000248633.4:p.Pro162LeufsTer?
ENST00000428214.5:c.485_488del	ENSP00000394413.1:p.Pro162LeufsTer?
ENST00000438045.5:c.274-4063_274-4060del	ENSP00000410438.1:n.274-4063_274-4060del
ENST00000484913.5:n.524_527del
NM_000466.2:c.485_488del	NP_000457.1:p.Pro162LeufsTer?
NM_001282677.1:c.485_488del	NP_001269606.1:p.Pro162LeufsTer?
NM_001282678.1:c.-140_-137del	NP_001269607.1:n.-140_-137del
XR_242246.3:n.581_584del
XR_242246.5:n.532_535del
NM_000466.3:c.485_488del MANE Select	NP_000457.1:p.Pro162LeufsTer?
NM_001282677.2:c.485_488del	NP_001269606.1:p.Pro162LeufsTer?
NM_001282678.2:c.-140_-137del	NP_001269607.1:n.-140_-137del