Linked Data
dbSNP Id:
rs774002660
ExAC:
3:12641876 TGGAA / T
gnomAD v2:
3-12641876-TGGAA-T
gnomAD v4:
3-12600377-TGGAA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.12600378_12600381del , CM000665.2:g.12600378_12600381del | GRCh38 |
| NC_000003.11:g.12641877_12641880del , CM000665.1:g.12641877_12641880del | GRCh37 |
| NC_000003.10:g.12616877_12616880del | NCBI36 |
| NG_007467.1:g.68799_68802del , LRG_413:g.68799_68802del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000423275.6:c.*539+7_*539+10del | ENSP00000401088.1:n.*539+7_*539+10del | |
| ENST00000432427.3:c.182+7_182+10del | ||
| ENST00000465826.6:n.453+7_453+10del | ||
| ENST00000491290.2:n.1239+7_1239+10del | ||
| ENST00000684903.1:c.*539+7_*539+10del | ENSP00000508612.1:n.*539+7_*539+10del | |
| ENST00000685348.1:c.*539+7_*539+10del | ENSP00000510285.1:n.*539+7_*539+10del | |
| ENST00000685437.1:c.763+7_763+10del | ENSP00000508794.1:n.763+7_763+10del | |
| ENST00000685438.1:n.626+7_626+10del | ||
| ENST00000685653.1:c.862+7_862+10del | ENSP00000509968.1:n.862+7_862+10del | |
| ENST00000685738.1:c.862+7_862+10del | ENSP00000510156.1:n.862+7_862+10del | |
| ENST00000686409.1:n.1469_1472del | ||
| ENST00000686455.1:n.1225+7_1225+10del | ||
| ENST00000686479.1:n.1233+7_1233+10del | ||
| ENST00000686762.1:c.862+7_862+10del | ENSP00000509767.1:n.862+7_862+10del | |
| ENST00000687257.1:n.1098+7_1098+10del | ||
| ENST00000687326.1:c.862+7_862+10del | ENSP00000509665.1:n.862+7_862+10del | |
| ENST00000687486.1:c.182+7_182+10del | ||
| ENST00000687505.1:n.980+7_980+10del | ||
| ENST00000687923.1:c.763+7_763+10del | ENSP00000510255.1:n.763+7_763+10del | |
| ENST00000687940.1:n.1239+7_1239+10del | ||
| ENST00000688269.1:n.1470+7_1470+10del | ||
| ENST00000688326.1:c.182+7_182+10del | ||
| ENST00000688444.1:n.1188+7_1188+10del | ||
| ENST00000688543.1:c.763+7_763+10del | ENSP00000509612.1:n.763+7_763+10del | |
| ENST00000688625.1:c.*440+7_*440+10del | ENSP00000509522.1:n.*440+7_*440+10del | |
| ENST00000688803.1:n.1093+7_1093+10del | ||
| ENST00000689097.1:c.*539+7_*539+10del | ENSP00000509756.1:n.*539+7_*539+10del | |
| ENST00000689389.1:c.862+7_862+10del | ENSP00000510213.1:n.862+7_862+10del | |
| ENST00000689418.1:c.*539+7_*539+10del | ENSP00000509467.1:n.*539+7_*539+10del | |
| ENST00000689481.1:c.*539+7_*539+10del | ENSP00000510248.1:n.*539+7_*539+10del | |
| ENST00000689540.1:n.1012+7_1012+10del | ||
| ENST00000689876.1:c.862+7_862+10del | ENSP00000508535.1:n.862+7_862+10del | |
| ENST00000689914.1:c.862+7_862+10del | ENSP00000509847.1:n.862+7_862+10del | |
| ENST00000690397.1:c.763+7_763+10del | ENSP00000508730.1:n.763+7_763+10del | |
| ENST00000690460.1:c.862+7_862+10del | ENSP00000509106.1:n.862+7_862+10del | |
| ENST00000690625.1:n.1165+7_1165+10del | ||
| ENST00000691268.1:c.289+7_289+10del | ||
| ENST00000691396.1:c.*655+7_*655+10del | ENSP00000510712.1:n.*655+7_*655+10del | |
| ENST00000691724.1:c.862+7_862+10del | ENSP00000509255.1:n.862+7_862+10del | |
| ENST00000691779.1:c.*440+7_*440+10del | ENSP00000508592.1:n.*440+7_*440+10del | |
| ENST00000691899.1:c.862+7_862+10del | ENSP00000508763.1:n.862+7_862+10del | |
| ENST00000692069.1:n.984_987del | ||
| ENST00000692093.1:c.763+7_763+10del | ENSP00000509669.1:n.763+7_763+10del | |
| ENST00000692311.1:n.1242_1245del | ||
| ENST00000692558.1:n.1227+7_1227+10del | ||
| ENST00000692773.1:c.*599+7_*599+10del | ENSP00000509055.1:n.*599+7_*599+10del | |
| ENST00000692830.1:c.*607+7_*607+10del | ENSP00000509461.1:n.*607+7_*607+10del | |
| ENST00000693069.1:c.763+7_763+10del | ENSP00000510072.1:n.763+7_763+10del | |
| ENST00000693312.1:c.637+7_637+10del | ENSP00000508686.1:n.637+7_637+10del | |
| ENST00000693664.1:c.862+7_862+10del | ENSP00000509614.1:n.862+7_862+10del | |
| ENST00000693705.1:c.*539+7_*539+10del | ENSP00000510697.1:n.*539+7_*539+10del | |
| ENST00000251849.9:c.862+7_862+10del MANE Select | ENSP00000251849.4:n.862+7_862+10del | |
| ENST00000442415.7:c.922+7_922+10del | ENSP00000401888.2:n.922+7_922+10del | |
| ENST00000251849.8:c.862+7_862+10del | ENSP00000251849.4:n.862+7_862+10del | |
| ENST00000423275.5:c.*539+7_*539+10del | ENSP00000401088.1:n.*539+7_*539+10del | |
| ENST00000432427.2:c.499+7_499+10del | ENSP00000398591.2:n.499+7_499+10del | |
| ENST00000442415.6:c.922+7_922+10del | ENSP00000401888.2:n.922+7_922+10del | |
| ENST00000465826.5:n.106+7_106+10del | ||
| ENST00000491290.1:n.390_393del | ||
| NM_002880.3:c.862+7_862+10del , LRG_413t1:c.862+7_862+10del | NP_002871.1:n.862+7_862+10del | |
| XM_005265355.1:c.862+7_862+10del | XP_005265412.1:n.862+7_862+10del | |
| XM_005265357.1:c.763+7_763+10del | XP_005265414.1:n.763+7_763+10del | |
| XM_005265358.3:c.619+7_619+10del | XP_005265415.1:n.619+7_619+10del | |
| XM_005265359.3:c.520+7_520+10del | XP_005265416.1:n.520+7_520+10del | |
| XM_005265360.1:c.862+7_862+10del | XP_005265417.1:n.862+7_862+10del | |
| XM_011533974.1:c.862+7_862+10del | XP_011532276.1:n.862+7_862+10del | |
| XM_011533975.1:c.619+7_619+10del | XP_011532277.1:n.619+7_619+10del | |
| NM_001354689.1:c.922+7_922+10del | NP_001341618.1:n.922+7_922+10del | |
| NM_001354690.1:c.862+7_862+10del | NP_001341619.1:n.862+7_862+10del | |
| NM_001354691.1:c.619+7_619+10del | NP_001341620.1:n.619+7_619+10del | |
| NM_001354692.1:c.619+7_619+10del | NP_001341621.1:n.619+7_619+10del | |
| NM_001354693.1:c.763+7_763+10del | NP_001341622.1:n.763+7_763+10del | |
| NM_001354694.1:c.679+7_679+10del | NP_001341623.1:n.679+7_679+10del | |
| NM_001354695.1:c.520+7_520+10del | NP_001341624.1:n.520+7_520+10del | |
| NR_148940.1:n.1277+7_1277+10del | ||
| NR_148941.1:n.1277+7_1277+10del | ||
| NR_148942.1:n.1277+7_1277+10del | ||
| XM_011533974.3:c.862+7_862+10del | XP_011532276.1:n.862+7_862+10del | |
| XM_017006966.1:c.763+7_763+10del | XP_016862455.1:n.763+7_763+10del | |
| XR_001740227.1:n.1094+7_1094+10del | ||
| NM_001354689.3:c.922+7_922+10del | NP_001341618.1:n.922+7_922+10del | |
| NM_001354690.2:c.862+7_862+10del | NP_001341619.1:n.862+7_862+10del | |
| NM_001354691.2:c.619+7_619+10del | NP_001341620.1:n.619+7_619+10del | |
| NM_001354692.2:c.619+7_619+10del | NP_001341621.1:n.619+7_619+10del | |
| NM_001354693.2:c.763+7_763+10del | NP_001341622.1:n.763+7_763+10del | |
| NM_001354694.2:c.679+7_679+10del | NP_001341623.1:n.679+7_679+10del | |
| NM_001354695.2:c.520+7_520+10del | NP_001341624.1:n.520+7_520+10del | |
| NR_148940.2:n.1193+7_1193+10del | ||
| NR_148941.2:n.1193+7_1193+10del | ||
| NR_148942.2:n.1193+7_1193+10del | ||
| NM_001354690.3:c.862+7_862+10del | NP_001341619.1:n.862+7_862+10del | |
| NM_001354691.3:c.619+7_619+10del | NP_001341620.1:n.619+7_619+10del | |
| NM_001354692.3:c.619+7_619+10del | NP_001341621.1:n.619+7_619+10del | |
| NM_001354693.3:c.763+7_763+10del | NP_001341622.1:n.763+7_763+10del | |
| NM_001354694.3:c.679+7_679+10del | NP_001341623.1:n.679+7_679+10del | |
| NM_001354695.3:c.520+7_520+10del | NP_001341624.1:n.520+7_520+10del | |
| NM_002880.4:c.862+7_862+10del MANE Select | NP_002871.1:n.862+7_862+10del | |
| NR_148940.3:n.1193+7_1193+10del | ||
| NR_148941.3:n.1193+7_1193+10del | ||
| NR_148942.3:n.1193+7_1193+10del |