Linked Data
dbSNP Id:
rs1712677560
gnomAD v2:
4-25158357-AGAAGTCTTTTC-A
gnomAD v3:
4-25156735-AGAAGTCTTTTC-A
gnomAD v4:
4-25156735-AGAAGTCTTTTC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.25156736_25156746del , CM000666.2:g.25156736_25156746del | GRCh38 |
| NC_000004.11:g.25158358_25158368del , CM000666.1:g.25158358_25158368del | GRCh37 |
| NC_000004.10:g.24767456_24767466del | NCBI36 |
| NG_028222.1:g.8837_8847del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382103.7:c.388+110_388+120del MANE Select | ENSP00000371535.2:n.388+110_388+120del | |
| ENST00000680581.1:c.388+110_388+120del | ENSP00000506483.1:n.388+110_388+120del | |
| ENST00000680824.1:n.1604+110_1604+120del | ||
| ENST00000681071.1:n.680+110_680+120del | ||
| ENST00000681166.1:n.1435+110_1435+120del | ||
| ENST00000681341.1:n.1529+110_1529+120del | ||
| ENST00000681640.1:n.482+110_482+120del | ||
| ENST00000681948.1:c.643+110_643+120del | ENSP00000505991.1:n.643+110_643+120del | |
| ENST00000358971.7:c.*186+110_*186+120del | ENSP00000351857.3:n.*186+110_*186+120del | |
| ENST00000382103.6:c.388+110_388+120del | ENSP00000371535.2:n.388+110_388+120del | |
| ENST00000514585.5:c.*89+110_*89+120del | ENSP00000421880.1:n.*89+110_*89+120del | |
| NM_016955.3:c.388+110_388+120del | NP_058651.3:n.388+110_388+120del | |
| XM_005248168.2:c.151+110_151+120del | XP_005248225.1:n.151+110_151+120del | |
| XM_006713965.2:c.208+110_208+120del | XP_006714028.1:n.208+110_208+120del | |
| XM_011513846.1:c.385+110_385+120del | XP_011512148.1:n.385+110_385+120del | |
| XM_011513847.1:c.355+110_355+120del | XP_011512149.1:n.355+110_355+120del | |
| XM_011513848.1:c.208+110_208+120del | XP_011512150.1:n.208+110_208+120del | |
| XM_011513846.2:c.385+110_385+120del | XP_011512148.1:n.385+110_385+120del | |
| XM_011513847.2:c.355+110_355+120del | XP_011512149.1:n.355+110_355+120del | |
| XM_017008277.1:c.643+110_643+120del | XP_016863766.1:n.643+110_643+120del | |
| XM_017008278.1:c.-36+110_-36+120del | XP_016863767.1:n.-36+110_-36+120del | |
| NM_016955.4:c.388+110_388+120del MANE Select | NP_058651.3:n.388+110_388+120del |