Canonical Allele Identifier: CA1725931924
Gene: PEX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92494817_92494819delinsTTA , CM000669.2:g.92494817_92494819delinsTTA GRCh38
NC_000007.13:g.92124131_92124133delinsTTA , CM000669.1:g.92124131_92124133delinsTTA GRCh37
NC_000007.12:g.91962067_91962069delinsTTA NCBI36
NG_008341.1:g.38713_38715delinsTAA
NG_008341.2:g.38713_38715delinsTAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000248633.9:c.2784-190_2784-188delinsTAA MANE Select ENSP00000248633.4:n.2784-190_2784-188delinsTAA
ENST00000248633.8:c.2784-190_2784-188delinsTAA ENSP00000248633.4:n.2784-190_2784-188delinsTAA
ENST00000428214.5:c.2613-190_2613-188delinsTAA ENSP00000394413.1:n.2613-190_2613-188delinsTAA
ENST00000438045.5:c.1818-190_1818-188delinsTAA ENSP00000410438.1:n.1818-190_1818-188delinsTAA
ENST00000484913.5:n.2823-190_2823-188delinsTAA
ENST00000496420.5:n.2676-190_2676-188delinsTAA
NM_000466.2:c.2784-190_2784-188delinsTAA NP_000457.1:n.2784-190_2784-188delinsTAA
NM_001282677.1:c.2613-190_2613-188delinsTAA NP_001269606.1:n.2613-190_2613-188delinsTAA
NM_001282678.1:c.2160-190_2160-188delinsTAA NP_001269607.1:n.2160-190_2160-188delinsTAA
XM_005250433.3:c.1035-190_1035-188delinsTAA XP_005250490.1:n.1035-190_1035-188delinsTAA
XR_242246.3:n.2880-190_2880-188delinsTAA
XM_017012319.2:c.1035-190_1035-188delinsTAA XP_016867808.1:n.1035-190_1035-188delinsTAA
XR_001744808.2:n.1811-190_1811-188delinsTAA
XR_242246.5:n.2831-190_2831-188delinsTAA
NM_000466.3:c.2784-190_2784-188delinsTAA MANE Select NP_000457.1:n.2784-190_2784-188delinsTAA
NM_001282677.2:c.2613-190_2613-188delinsTAA NP_001269606.1:n.2613-190_2613-188delinsTAA
NM_001282678.2:c.2160-190_2160-188delinsTAA NP_001269607.1:n.2160-190_2160-188delinsTAA