Canonical Allele Identifier: CA2566347344
Gene: PEX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92518270_92518271insATCTTGGG , CM000669.2:g.92518270_92518271insATCTTGGG GRCh38
NC_000007.13:g.92147584_92147585insATCTTGGG , CM000669.1:g.92147584_92147585insATCTTGGG GRCh37
NC_000007.12:g.91985520_91985521insATCTTGGG NCBI36
NG_008341.1:g.15261_15262insCCCAAGAT
NG_008341.2:g.15261_15262insCCCAAGAT

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.358-16_358-15insCCCAAGAT MANE Select ENSP00000248633.4:n.358-16_358-15insCCCAA...
ENST00000248633.8:c.358-16_358-15insCCCAAGAT ENSP00000248633.4:n.358-16_358-15insCCCAA...
ENST00000428214.5:c.358-16_358-15insCCCAAGAT ENSP00000394413.1:n.358-16_358-15insCCCAA...
ENST00000438045.5:c.273+3831_273+3832insCCCAAGAT ENSP00000410438.1:n.273+3831_273+3832insC...
ENST00000484913.5:n.397-16_397-15insCCCAAGAT
NM_000466.2:c.358-16_358-15insCCCAAGAT NP_000457.1:n.358-16_358-15insCCCAAGAT
NM_001282677.1:c.358-16_358-15insCCCAAGAT NP_001269606.1:n.358-16_358-15insCCCAAGAT...
NM_001282678.1:c.-267-16_-267-15insCCCAAGAT NP_001269607.1:n.-267-16_-267-15insCCCAAG...
XR_242246.3:n.454-16_454-15insCCCAAGAT
XR_242246.5:n.405-16_405-15insCCCAAGAT
NM_000466.3:c.358-16_358-15insCCCAAGAT MANE Select NP_000457.1:n.358-16_358-15insCCCAAGAT
NM_001282677.2:c.358-16_358-15insCCCAAGAT NP_001269606.1:n.358-16_358-15insCCCAAGAT...
NM_001282678.2:c.-267-16_-267-15insCCCAAGAT NP_001269607.1:n.-267-16_-267-15insCCCAAG...