Canonical Allele Identifier: CA1725951586

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92522019_92522020delinsCA , CM000669.2:g.92522019_92522020delinsCA	GRCh38
NC_000007.13:g.92151333_92151334delinsCA , CM000669.1:g.92151333_92151334delinsCA	GRCh37
NC_000007.12:g.91989269_91989270delinsCA	NCBI36
NG_008341.1:g.11512_11513delinsTG
NG_008341.2:g.11512_11513delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.273+82_273+83delinsTG MANE Select	ENSP00000248633.4:n.273+82_273+83delinsTG
ENST00000248633.8:c.273+82_273+83delinsTG	ENSP00000248633.4:n.273+82_273+83delinsTG
ENST00000428214.5:c.273+82_273+83delinsTG	ENSP00000394413.1:n.273+82_273+83delinsTG
ENST00000438045.5:c.273+82_273+83delinsTG	ENSP00000410438.1:n.273+82_273+83delinsTG
ENST00000484913.5:n.277+82_277+83delinsTG
NM_000466.2:c.273+82_273+83delinsTG	NP_000457.1:n.273+82_273+83delinsTG
NM_001282677.1:c.273+82_273+83delinsTG	NP_001269606.1:n.273+82_273+83delinsTG
NM_001282678.1:c.-387+82_-387+83delinsTG	NP_001269607.1:n.-387+82_-387+83delinsTG
XR_242246.3:n.369+82_369+83delinsTG
XR_242246.5:n.320+82_320+83delinsTG
NM_000466.3:c.273+82_273+83delinsTG MANE Select	NP_000457.1:n.273+82_273+83delinsTG
NM_001282677.2:c.273+82_273+83delinsTG	NP_001269606.1:n.273+82_273+83delinsTG
NM_001282678.2:c.-387+82_-387+83delinsTG	NP_001269607.1:n.-387+82_-387+83delinsTG