Canonical Allele Identifier: CA1725931720
Gene: PEX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92494640_92494641delinsCA , CM000669.2:g.92494640_92494641delinsCA GRCh38
NC_000007.13:g.92123954_92123955delinsCA , CM000669.1:g.92123954_92123955delinsCA GRCh37
NC_000007.12:g.91961890_91961891delinsCA NCBI36
NG_008341.1:g.38891_38892delinsTG
NG_008341.2:g.38891_38892delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000248633.9:c.2784-12_2784-11delinsTG MANE Select ENSP00000248633.4:n.2784-12_2784-11delinsTG
ENST00000248633.8:c.2784-12_2784-11delinsTG ENSP00000248633.4:n.2784-12_2784-11delinsTG
ENST00000428214.5:c.2613-12_2613-11delinsTG ENSP00000394413.1:n.2613-12_2613-11delinsTG
ENST00000438045.5:c.1818-12_1818-11delinsTG ENSP00000410438.1:n.1818-12_1818-11delinsTG
ENST00000484913.5:n.2823-12_2823-11delinsTG
ENST00000496420.5:n.2676-12_2676-11delinsTG
NM_000466.2:c.2784-12_2784-11delinsTG NP_000457.1:n.2784-12_2784-11delinsTG
NM_001282677.1:c.2613-12_2613-11delinsTG NP_001269606.1:n.2613-12_2613-11delinsTG
NM_001282678.1:c.2160-12_2160-11delinsTG NP_001269607.1:n.2160-12_2160-11delinsTG
XM_005250433.3:c.1035-12_1035-11delinsTG XP_005250490.1:n.1035-12_1035-11delinsTG
XR_242246.3:n.2880-12_2880-11delinsTG
XM_017012319.2:c.1035-12_1035-11delinsTG XP_016867808.1:n.1035-12_1035-11delinsTG
XR_001744808.2:n.1811-12_1811-11delinsTG
XR_242246.5:n.2831-12_2831-11delinsTG
NM_000466.3:c.2784-12_2784-11delinsTG MANE Select NP_000457.1:n.2784-12_2784-11delinsTG
NM_001282677.2:c.2613-12_2613-11delinsTG NP_001269606.1:n.2613-12_2613-11delinsTG
NM_001282678.2:c.2160-12_2160-11delinsTG NP_001269607.1:n.2160-12_2160-11delinsTG