Canonical Allele Identifier: CA2525023984

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92522093_92522094insTTT , CM000669.2:g.92522093_92522094insTTT	GRCh38
NC_000007.13:g.92151407_92151408insTTT , CM000669.1:g.92151407_92151408insTTT	GRCh37
NC_000007.12:g.91989343_91989344insTTT	NCBI36
NG_008341.1:g.11439_11440insAAA
NG_008341.2:g.11439_11440insAAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.273+9_273+10insAAA MANE Select	ENSP00000248633.4:n.273+9_273+10insAAA
ENST00000248633.8:c.273+9_273+10insAAA	ENSP00000248633.4:n.273+9_273+10insAAA
ENST00000428214.5:c.273+9_273+10insAAA	ENSP00000394413.1:n.273+9_273+10insAAA
ENST00000438045.5:c.273+9_273+10insAAA	ENSP00000410438.1:n.273+9_273+10insAAA
ENST00000484913.5:n.277+9_277+10insAAA
NM_000466.2:c.273+9_273+10insAAA	NP_000457.1:n.273+9_273+10insAAA
NM_001282677.1:c.273+9_273+10insAAA	NP_001269606.1:n.273+9_273+10insAAA
NM_001282678.1:c.-387+9_-387+10insAAA	NP_001269607.1:n.-387+9_-387+10insAAA
XR_242246.3:n.369+9_369+10insAAA
XR_242246.5:n.320+9_320+10insAAA
NM_000466.3:c.273+9_273+10insAAA MANE Select	NP_000457.1:n.273+9_273+10insAAA
NM_001282677.2:c.273+9_273+10insAAA	NP_001269606.1:n.273+9_273+10insAAA
NM_001282678.2:c.-387+9_-387+10insAAA	NP_001269607.1:n.-387+9_-387+10insAAA