Canonical Allele Identifier: CA1725948631
Gene: PEX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92518268_92518274delinsGACGAAA , CM000669.2:g.92518268_92518274delinsGACGAAA GRCh38
NC_000007.13:g.92147582_92147588delinsGACGAAA , CM000669.1:g.92147582_92147588delinsGACGAAA GRCh37
NC_000007.12:g.91985518_91985524delinsGACGAAA NCBI36
NG_008341.1:g.15258_15264delinsTTTCGTC
NG_008341.2:g.15258_15264delinsTTTCGTC

Transcript Alleles

HGVS Amino-acid change
ENST00000248633.9:c.358-19_358-13delinsTTTCGTC MANE Select ENSP00000248633.4:n.358-19_358-13delinsTT...
ENST00000248633.8:c.358-19_358-13delinsTTTCGTC ENSP00000248633.4:n.358-19_358-13delinsTT...
ENST00000428214.5:c.358-19_358-13delinsTTTCGTC ENSP00000394413.1:n.358-19_358-13delinsTT...
ENST00000438045.5:c.273+3828_273+3834delinsTTTCGTC ENSP00000410438.1:n.273+3828_273+3834deli...
ENST00000484913.5:n.397-19_397-13delinsTTTCGTC
NM_000466.2:c.358-19_358-13delinsTTTCGTC NP_000457.1:n.358-19_358-13delinsTTTCGTC
NM_001282677.1:c.358-19_358-13delinsTTTCGTC NP_001269606.1:n.358-19_358-13delinsTTTCG...
NM_001282678.1:c.-267-19_-267-13delinsTTTCGTC NP_001269607.1:n.-267-19_-267-13delinsTTT...
XR_242246.3:n.454-19_454-13delinsTTTCGTC
XR_242246.5:n.405-19_405-13delinsTTTCGTC
NM_000466.3:c.358-19_358-13delinsTTTCGTC MANE Select NP_000457.1:n.358-19_358-13delinsTTTCGTC
NM_001282677.2:c.358-19_358-13delinsTTTCGTC NP_001269606.1:n.358-19_358-13delinsTTTCG...
NM_001282678.2:c.-267-19_-267-13delinsTTTCGTC NP_001269607.1:n.-267-19_-267-13delinsTTT...