Linked Data
dbSNP Id:
rs1475222788
gnomAD v2:
7-92118536-TAA-T
gnomAD v3:
7-92489222-TAA-T
gnomAD v4:
7-92489222-TAA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92489224_92489225del , CM000669.2:g.92489224_92489225del | GRCh38 |
| NC_000007.13:g.92118538_92118539del , CM000669.1:g.92118538_92118539del | GRCh37 |
| NC_000007.12:g.91956474_91956475del | NCBI36 |
| NG_008341.1:g.44308_44309del | |
| NG_008341.2:g.44308_44309del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.3767+69_3767+70del (PEX1) MANE Select | ENSP00000248633.4:n.3767+69_3767+70del | |
| ENST00000248633.8:c.3767+69_3767+70del (PEX1) | ENSP00000248633.4:n.3767+69_3767+70del | |
| ENST00000428214.5:c.3596+69_3596+70del (PEX1) | ENSP00000394413.1:n.3596+69_3596+70del | |
| ENST00000438045.5:c.2801+69_2801+70del (PEX1) | ENSP00000410438.1:n.2801+69_2801+70del | |
| ENST00000477342.1:n.502+69_502+70del (PEX1) | ||
| ENST00000484913.5:n.3806+69_3806+70del (PEX1) | ||
| ENST00000496420.5:n.4817+69_4817+70del (PEX1) | ||
| NM_000466.2:c.3767+69_3767+70del (PEX1) | NP_000457.1:n.3767+69_3767+70del | |
| NM_001282677.1:c.3596+69_3596+70del (PEX1) | NP_001269606.1:n.3596+69_3596+70del | |
| NM_001282678.1:c.3143+69_3143+70del (PEX1) | NP_001269607.1:n.3143+69_3143+70del | |
| XM_005250433.3:c.2018+69_2018+70del (PEX1) | XP_005250490.1:n.2018+69_2018+70del | |
| XR_242246.3:n.3858+69_3858+70del (PEX1) | ||
| XR_927494.1:n.1036-2019_1036-2018del (GATAD1) | ||
| XR_927495.1:n.1036-862_1036-861del (GATAD1) | ||
| XR_927496.1:n.1041-2019_1041-2018del (GATAD1) | ||
| XR_927497.1:n.1036-862_1036-861del (GATAD1) | ||
| XR_927498.1:n.1124-2019_1124-2018del (GATAD1) | ||
| XR_927500.1:n.1033-2019_1033-2018del (GATAD1) | ||
| XR_927502.1:n.1033-862_1033-861del (GATAD1) | ||
| XR_927503.1:n.967-2019_967-2018del (GATAD1) | ||
| XM_017012319.2:c.2018+69_2018+70del (PEX1) | XP_016867808.1:n.2018+69_2018+70del | |
| XR_001744808.2:n.2789+69_2789+70del (PEX1) | ||
| XR_001744842.2:n.2281-2019_2281-2018del (GATAD1) | ||
| XR_001744843.2:n.2212-2019_2212-2018del (GATAD1) | ||
| XR_002956472.1:n.2281-862_2281-861del (GATAD1) | ||
| XR_002956473.1:n.2369-2019_2369-2018del (GATAD1) | ||
| XR_002956474.1:n.2286-2019_2286-2018del (GATAD1) | ||
| XR_242246.5:n.3809+69_3809+70del (PEX1) | ||
| XR_927494.3:n.1063-2019_1063-2018del (GATAD1) | ||
| XR_927500.3:n.1060-2019_1060-2018del (GATAD1) | ||
| XR_927503.3:n.994-2019_994-2018del (GATAD1) | ||
| NM_000466.3:c.3767+69_3767+70del (PEX1) MANE Select | NP_000457.1:n.3767+69_3767+70del | |
| NM_001282677.2:c.3596+69_3596+70del (PEX1) | NP_001269606.1:n.3596+69_3596+70del | |
| NM_001282678.2:c.3143+69_3143+70del (PEX1) | NP_001269607.1:n.3143+69_3143+70del |