Canonical Allele Identifier: CA2776945968
Gene: PEX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92494678_92494679insAT , CM000669.2:g.92494678_92494679insAT GRCh38
NC_000007.13:g.92123992_92123993insAT , CM000669.1:g.92123992_92123993insAT GRCh37
NC_000007.12:g.91961928_91961929insAT NCBI36
NG_008341.1:g.38853_38854insAT
NG_008341.2:g.38853_38854insAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000248633.9:c.2784-50_2784-49insAT MANE Select ENSP00000248633.4:n.2784-50_2784-49insAT
ENST00000248633.8:c.2784-50_2784-49insAT ENSP00000248633.4:n.2784-50_2784-49insAT
ENST00000428214.5:c.2613-50_2613-49insAT ENSP00000394413.1:n.2613-50_2613-49insAT
ENST00000438045.5:c.1818-50_1818-49insAT ENSP00000410438.1:n.1818-50_1818-49insAT
ENST00000484913.5:n.2823-50_2823-49insAT
ENST00000496420.5:n.2676-50_2676-49insAT
NM_000466.2:c.2784-50_2784-49insAT NP_000457.1:n.2784-50_2784-49insAT
NM_001282677.1:c.2613-50_2613-49insAT NP_001269606.1:n.2613-50_2613-49insAT
NM_001282678.1:c.2160-50_2160-49insAT NP_001269607.1:n.2160-50_2160-49insAT
XM_005250433.3:c.1035-50_1035-49insAT XP_005250490.1:n.1035-50_1035-49insAT
XR_242246.3:n.2880-50_2880-49insAT
XM_017012319.2:c.1035-50_1035-49insAT XP_016867808.1:n.1035-50_1035-49insAT
XR_001744808.2:n.1811-50_1811-49insAT
XR_242246.5:n.2831-50_2831-49insAT
NM_000466.3:c.2784-50_2784-49insAT MANE Select NP_000457.1:n.2784-50_2784-49insAT
NM_001282677.2:c.2613-50_2613-49insAT NP_001269606.1:n.2613-50_2613-49insAT
NM_001282678.2:c.2160-50_2160-49insAT NP_001269607.1:n.2160-50_2160-49insAT