Canonical Allele Identifier: CA2776946486
Gene: PEX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92504966_92504967insACA , CM000669.2:g.92504966_92504967insACA GRCh38
NC_000007.13:g.92134280_92134281insACA , CM000669.1:g.92134280_92134281insACA GRCh37
NC_000007.12:g.91972216_91972217insACA NCBI36
NG_008341.1:g.28565_28566insTGT
NG_008341.2:g.28565_28566insTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000248633.9:c.1901-65_1901-64insTGT MANE Select ENSP00000248633.4:n.1901-65_1901-64insTGT
ENST00000248633.8:c.1901-65_1901-64insTGT ENSP00000248633.4:n.1901-65_1901-64insTGT
ENST00000422866.1:c.719-65_719-64insTGT
ENST00000428214.5:c.1900+1281_1900+1282insTGT ENSP00000394413.1:n.1900+1281_1900+1282insTGT
ENST00000438045.5:c.935-65_935-64insTGT ENSP00000410438.1:n.935-65_935-64insTGT
ENST00000484913.5:n.1940-65_1940-64insTGT
ENST00000496420.5:n.1577-65_1577-64insTGT
NM_000466.2:c.1901-65_1901-64insTGT NP_000457.1:n.1901-65_1901-64insTGT
NM_001282677.1:c.1900+1281_1900+1282insTGT NP_001269606.1:n.1900+1281_1900+1282insTGT
NM_001282678.1:c.1277-65_1277-64insTGT NP_001269607.1:n.1277-65_1277-64insTGT
XM_005250433.3:c.152-65_152-64insTGT XP_005250490.1:n.152-65_152-64insTGT
XR_242246.3:n.1997-65_1997-64insTGT
XM_017012319.2:c.152-65_152-64insTGT XP_016867808.1:n.152-65_152-64insTGT
XR_001744808.2:n.928-65_928-64insTGT
XR_242246.5:n.1948-65_1948-64insTGT
NM_000466.3:c.1901-65_1901-64insTGT MANE Select NP_000457.1:n.1901-65_1901-64insTGT
NM_001282677.2:c.1900+1281_1900+1282insTGT NP_001269606.1:n.1900+1281_1900+1282insTGT
NM_001282678.2:c.1277-65_1277-64insTGT NP_001269607.1:n.1277-65_1277-64insTGT