Linked Data
ClinVar Variation Id:
225048
dbSNP Id:
rs749272546
ExAC:
6:70411361 TC / T
gnomAD v2:
6-70411361-TC-T
gnomAD v3:
6-69701469-TC-T
gnomAD v4:
6-69701469-TC-T
COSMIC:
COSM4586878
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.69701470del , CM000668.2:g.69701470del | GRCh38 |
| NC_000006.11:g.70411362del , CM000668.1:g.70411362del | GRCh37 |
| NC_000006.10:g.70468083del | NCBI36 |
| NG_016012.1:g.100688del | |
| NG_016012.2:g.170147del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370570.6:c.837del | ENSP00000359602.1:p.Asn280IlefsTer18 | |
| ENST00000472827.2:c.*221del | ENSP00000433385.2:n.*221del | |
| ENST00000647650.1:c.*553del | ENSP00000497808.1:n.*553del | |
| ENST00000647655.1:n.2659del | ||
| ENST00000647934.1:n.1376del | ||
| ENST00000647964.1:c.837del | ENSP00000496784.1:p.Asn280IlefsTer18 | |
| ENST00000648168.1:c.837del | ENSP00000498178.1:p.Asn280IlefsTer18 | |
| ENST00000648210.1:n.867del | ||
| ENST00000648265.1:n.923del | ||
| ENST00000648303.1:c.*629del | ENSP00000498133.1:n.*629del | |
| ENST00000648394.1:c.837del | ENSP00000497302.1:p.Asn280IlefsTer18 | |
| ENST00000648635.1:c.*821del | ENSP00000497204.1:n.*821del | |
| ENST00000648743.1:c.837del | ENSP00000497135.1:p.Asn280IlefsTer18 | |
| ENST00000649011.1:c.1122del | ENSP00000497575.1:p.Asn375IlefsTer18 | |
| ENST00000649028.1:c.837del | ENSP00000498034.1:p.Asn280IlefsTer18 | |
| ENST00000649054.1:c.*113del | ENSP00000496991.1:n.*113del | |
| ENST00000649057.1:c.*621del | ENSP00000497639.1:n.*621del | |
| ENST00000649166.1:c.*740del | ENSP00000496844.1:n.*740del | |
| ENST00000649370.1:n.1247del | ||
| ENST00000649673.1:c.*412del | ENSP00000497864.1:n.*412del | |
| ENST00000649679.1:c.837del | ENSP00000497387.1:p.Asn280IlefsTer18 | |
| ENST00000649744.1:n.1244del | ||
| ENST00000649795.1:c.*643del | ENSP00000498147.1:n.*643del | |
| ENST00000649918.1:c.837del | ENSP00000497487.1:p.Asn280IlefsTer18 | |
| ENST00000649934.3:c.1056del MANE Select | ENSP00000497690.1:p.Asn353IlefsTer18 | |
| ENST00000649958.1:c.*641del | ENSP00000496827.1:n.*641del | |
| ENST00000650035.1:c.837del | ENSP00000497703.1:p.Asn280IlefsTer18 | |
| ENST00000650043.1:n.1035del | ||
| ENST00000650107.1:c.837del | ENSP00000497124.1:p.Asn280IlefsTer18 | |
| ENST00000650124.1:c.*566del | ENSP00000497903.1:n.*566del | |
| ENST00000650473.1:c.809del | ENSP00000497045.1:n.809del | |
| ENST00000370570.5:c.837del | ENSP00000359602.1:p.Asn280IlefsTer18 | |
| ENST00000370577.7:c.1056del | ENSP00000359609.3:p.Asn353IlefsTer18 | |
| ENST00000472827.1:c.1056del | ENSP00000433385.1:p.Asn353IlefsTer21 | |
| NM_018368.3:c.1056del | NP_060838.3:p.Asn353IlefsTer18 | |
| XM_006715511.2:c.444del | XP_006715574.1:p.Asn149IlefsTer18 | |
| XM_011535941.1:c.837del | XP_011534243.1:p.Asn280IlefsTer18 | |
| NM_001363722.1:c.837del | NP_001350651.1:p.Asn280IlefsTer18 | |
| XM_024446488.1:c.837del | XP_024302256.1:p.Asn280IlefsTer18 | |
| NM_001363722.2:c.837del | NP_001350651.1:p.Asn280IlefsTer18 | |
| NM_001367271.1:c.837del | NP_001354200.1:p.Asn280IlefsTer18 | |
| NM_001367272.1:c.837del | NP_001354201.1:p.Asn280IlefsTer18 | |
| NM_018368.4:c.1056del MANE Select | NP_060838.3:p.Asn353IlefsTer18 |