Linked Data
dbSNP Id:
rs776678327
ExAC:
7:92119151 AAAC / A
gnomAD v2:
7-92119151-AAAC-A
gnomAD v4:
7-92489837-AAAC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92489841_92489843del , CM000669.2:g.92489841_92489843del | GRCh38 |
| NC_000007.13:g.92119155_92119157del , CM000669.1:g.92119155_92119157del | GRCh37 |
| NC_000007.12:g.91957091_91957093del | NCBI36 |
| NG_008341.1:g.43692_43694del | |
| NG_008341.2:g.43692_43694del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.3510_3512del (PEX1) MANE Select | ENSP00000248633.4:p.Leu1170del | |
| ENST00000248633.8:c.3510_3512del (PEX1) | ENSP00000248633.4:p.Leu1170del | |
| ENST00000428214.5:c.3339_3341del (PEX1) | ENSP00000394413.1:p.Leu1113del | |
| ENST00000438045.5:c.2544_2546del (PEX1) | ENSP00000410438.1:p.Leu848del | |
| ENST00000469417.1:n.407_409del (PEX1) | ||
| ENST00000484913.5:n.3549_3551del (PEX1) | ||
| ENST00000496420.5:n.4565_4567del (PEX1) | ||
| NM_000466.2:c.3510_3512del (PEX1) | NP_000457.1:p.Leu1170del | |
| NM_001282677.1:c.3339_3341del (PEX1) | NP_001269606.1:p.Leu1113del | |
| NM_001282678.1:c.2886_2888del (PEX1) | NP_001269607.1:p.Leu962del | |
| XM_005250433.3:c.1761_1763del (PEX1) | XP_005250490.1:p.Leu587del | |
| XR_242246.3:n.3606_3608del (PEX1) | ||
| XR_927494.1:n.1036-1402_1036-1400del (GATAD1) | ||
| XR_927495.1:n.1036-245_1036-243del (GATAD1) | ||
| XR_927496.1:n.1041-1402_1041-1400del (GATAD1) | ||
| XR_927497.1:n.1036-245_1036-243del (GATAD1) | ||
| XR_927498.1:n.1124-1402_1124-1400del (GATAD1) | ||
| XR_927500.1:n.1033-1402_1033-1400del (GATAD1) | ||
| XR_927502.1:n.1033-245_1033-243del (GATAD1) | ||
| XR_927503.1:n.967-1402_967-1400del (GATAD1) | ||
| XM_017012319.2:c.1761_1763del (PEX1) | XP_016867808.1:p.Leu587del | |
| XR_001744808.2:n.2537_2539del (PEX1) | ||
| XR_001744842.2:n.2281-1402_2281-1400del (GATAD1) | ||
| XR_001744843.2:n.2212-1402_2212-1400del (GATAD1) | ||
| XR_002956472.1:n.2281-245_2281-243del (GATAD1) | ||
| XR_002956473.1:n.2369-1402_2369-1400del (GATAD1) | ||
| XR_002956474.1:n.2286-1402_2286-1400del (GATAD1) | ||
| XR_242246.5:n.3557_3559del (PEX1) | ||
| XR_927494.3:n.1063-1402_1063-1400del (GATAD1) | ||
| XR_927500.3:n.1060-1402_1060-1400del (GATAD1) | ||
| XR_927503.3:n.994-1402_994-1400del (GATAD1) | ||
| NM_000466.3:c.3510_3512del (PEX1) MANE Select | NP_000457.1:p.Leu1170del | |
| NM_001282677.2:c.3339_3341del (PEX1) | NP_001269606.1:p.Leu1113del | |
| NM_001282678.2:c.2886_2888del (PEX1) | NP_001269607.1:p.Leu962del |