Linked Data
dbSNP Id:
rs34542574
gnomAD v2:
4-25158329-C-CAAAAAA
gnomAD v3:
4-25156707-C-CAAAAAA
gnomAD v4:
4-25156707-C-CAAAAAA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.25156730_25156735dup , CM000666.2:g.25156730_25156735dup | GRCh38 |
| NC_000004.11:g.25158352_25158357dup , CM000666.1:g.25158352_25158357dup | GRCh37 |
| NC_000004.10:g.24767450_24767455dup | NCBI36 |
| NG_028222.1:g.8870_8875dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382103.7:c.388+143_388+148dup MANE Select | ENSP00000371535.2:n.388+143_388+148dup | |
| ENST00000680581.1:c.388+143_388+148dup | ENSP00000506483.1:n.388+143_388+148dup | |
| ENST00000680824.1:n.1604+143_1604+148dup | ||
| ENST00000681071.1:n.680+143_680+148dup | ||
| ENST00000681166.1:n.1435+143_1435+148dup | ||
| ENST00000681341.1:n.1529+143_1529+148dup | ||
| ENST00000681640.1:n.482+143_482+148dup | ||
| ENST00000681948.1:c.643+143_643+148dup | ENSP00000505991.1:n.643+143_643+148dup | |
| ENST00000358971.7:c.*186+143_*186+148dup | ENSP00000351857.3:n.*186+143_*186+148dup | |
| ENST00000382103.6:c.388+143_388+148dup | ENSP00000371535.2:n.388+143_388+148dup | |
| ENST00000514585.5:c.*89+143_*89+148dup | ENSP00000421880.1:n.*89+143_*89+148dup | |
| NM_016955.3:c.388+143_388+148dup | NP_058651.3:n.388+143_388+148dup | |
| XM_005248168.2:c.151+143_151+148dup | XP_005248225.1:n.151+143_151+148dup | |
| XM_006713965.2:c.208+143_208+148dup | XP_006714028.1:n.208+143_208+148dup | |
| XM_011513846.1:c.385+143_385+148dup | XP_011512148.1:n.385+143_385+148dup | |
| XM_011513847.1:c.355+143_355+148dup | XP_011512149.1:n.355+143_355+148dup | |
| XM_011513848.1:c.208+143_208+148dup | XP_011512150.1:n.208+143_208+148dup | |
| XM_011513846.2:c.385+143_385+148dup | XP_011512148.1:n.385+143_385+148dup | |
| XM_011513847.2:c.355+143_355+148dup | XP_011512149.1:n.355+143_355+148dup | |
| XM_017008277.1:c.643+143_643+148dup | XP_016863766.1:n.643+143_643+148dup | |
| XM_017008278.1:c.-36+143_-36+148dup | XP_016863767.1:n.-36+143_-36+148dup | |
| NM_016955.4:c.388+143_388+148dup MANE Select | NP_058651.3:n.388+143_388+148dup |