Canonical Allele Identifier: CA2683720336
Gene: PEX1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.92509327_92509328del , CM000669.2:g.92509327_92509328del GRCh38
NC_000007.13:g.92138641_92138642del , CM000669.1:g.92138641_92138642del GRCh37
NC_000007.12:g.91976577_91976578del NCBI36
NG_008341.1:g.24204_24205del
NG_008341.2:g.24204_24205del

Transcript Alleles

HGVS Amino-acid Change
ENST00000248633.9:c.1670+1_1670+2del MANE Select ENSP00000248633.4:n.1670+1_1670+2del
ENST00000248633.8:c.1670+1_1670+2del ENSP00000248633.4:n.1670+1_1670+2del
ENST00000422866.1:c.488+1616_488+1617del
ENST00000428214.5:c.1670+1_1670+2del ENSP00000394413.1:n.1670+1_1670+2del
ENST00000438045.5:c.704+1_704+2del ENSP00000410438.1:n.704+1_704+2del
ENST00000484913.5:n.1709+1_1709+2del
NM_000466.2:c.1670+1_1670+2del NP_000457.1:n.1670+1_1670+2del
NM_001282677.1:c.1670+1_1670+2del NP_001269606.1:n.1670+1_1670+2del
NM_001282678.1:c.1046+1_1046+2del NP_001269607.1:n.1046+1_1046+2del
XM_005250433.3:c.-80+1616_-80+1617del XP_005250490.1:n.-80+1616_-80+1617del
XR_242246.3:n.1766+1_1766+2del
XM_017012319.2:c.-80+1616_-80+1617del XP_016867808.1:n.-80+1616_-80+1617del
XR_001744808.2:n.697+1616_697+1617del
XR_242246.5:n.1717+1_1717+2del
NM_000466.3:c.1670+1_1670+2del MANE Select NP_000457.1:n.1670+1_1670+2del
NM_001282677.2:c.1670+1_1670+2del NP_001269606.1:n.1670+1_1670+2del
NM_001282678.2:c.1046+1_1046+2del NP_001269607.1:n.1046+1_1046+2del