Linked Data
dbSNP Id:
rs200030492
gnomAD v2:
17-66523900-CTT-C
gnomAD v3:
17-68527759-CTT-C
gnomAD v4:
17-68527759-CTT-C
COSMIC:
COSM26715
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.68527760_68527761del , CM000679.2:g.68527760_68527761del | GRCh38 |
| NC_000017.10:g.66523901_66523902del , CM000679.1:g.66523901_66523902del | GRCh37 |
| NC_000017.9:g.64035496_64035497del | NCBI36 |
| NG_007093.3:g.119138_119139del , LRG_514:g.119138_119139del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000588188.7:c.709-80_709-79del | ENSP00000468106.2:n.709-80_709-79del | |
| ENST00000711037.1:c.709-80_709-79del | ENSP00000518555.1:n.709-80_709-79del | |
| ENST00000585427.6:c.709-80_709-79del | ENSP00000464715.2:n.709-80_709-79del | |
| ENST00000585981.6:c.709-80_709-79del | ENSP00000467311.2:n.709-80_709-79del | |
| ENST00000588178.6:c.709-80_709-79del | ENSP00000465013.2:n.709-80_709-79del | |
| ENST00000589017.6:c.709-80_709-79del | ENSP00000465445.2:n.709-80_709-79del | |
| ENST00000589480.6:c.709-80_709-79del | ENSP00000466649.2:n.709-80_709-79del | |
| ENST00000592800.6:c.709-80_709-79del | ENSP00000466314.2:n.709-80_709-79del | |
| ENST00000686019.1:n.828-80_828-79del | ||
| ENST00000689501.1:n.2901-80_2901-79del | ||
| ENST00000691392.1:n.1676-80_1676-79del | ||
| ENST00000589228.6:c.709-80_709-79del MANE Select | ENSP00000464977.2:n.709-80_709-79del | |
| ENST00000358598.6:c.709-80_709-79del | ENSP00000351410.1:n.709-80_709-79del | |
| ENST00000392710.8:c.*324-80_*324-79del | ENSP00000376474.4:n.*324-80_*324-79del | |
| ENST00000392711.5:c.709-80_709-79del | ENSP00000376475.1:n.709-80_709-79del | |
| ENST00000536854.6:c.709-80_709-79del | ENSP00000445625.1:n.709-80_709-79del | |
| ENST00000585907.1:n.177_178del | ||
| ENST00000585981.5:c.709-80_709-79del | ENSP00000467311.1:n.709-80_709-79del | |
| ENST00000586397.5:c.709-80_709-79del | ENSP00000466459.1:n.709-80_709-79del | |
| ENST00000586541.5:c.32-80_32-79del | ||
| ENST00000588188.6:c.709-80_709-79del | ENSP00000468106.2:n.709-80_709-79del | |
| ENST00000589228.5:c.709-80_709-79del | ENSP00000464977.1:n.709-80_709-79del | |
| ENST00000592800.5:c.119-80_119-79del | ||
| NM_001276289.1:c.709-80_709-79del | NP_001263218.1:n.709-80_709-79del | |
| NM_001276290.1:c.709-80_709-79del | NP_001263219.1:n.709-80_709-79del | |
| NM_001278433.1:c.709-80_709-79del | NP_001265362.1:n.709-80_709-79del | |
| NM_002734.4:c.709-80_709-79del , LRG_514t1:c.709-80_709-79del | NP_002725.1:n.709-80_709-79del | |
| NM_212471.2:c.709-80_709-79del | NP_997636.1:n.709-80_709-79del | |
| NM_212472.2:c.709-80_709-79del , LRG_514t2:c.709-80_709-79del | NP_997637.1:n.709-80_709-79del | |
| XM_011524983.1:c.709-80_709-79del | XP_011523285.1:n.709-80_709-79del | |
| XM_011524984.1:c.709-80_709-79del | XP_011523286.1:n.709-80_709-79del | |
| XM_011524985.1:c.709-80_709-79del | XP_011523287.1:n.709-80_709-79del | |
| XM_011524983.3:c.709-80_709-79del | XP_011523285.1:n.709-80_709-79del | |
| XM_011524984.3:c.709-80_709-79del | XP_011523286.1:n.709-80_709-79del | |
| XM_011524985.3:c.709-80_709-79del | XP_011523287.1:n.709-80_709-79del | |
| NM_001369389.1:c.709-80_709-79del | NP_001356318.1:n.709-80_709-79del | |
| NM_001369390.1:c.709-80_709-79del | NP_001356319.1:n.709-80_709-79del | |
| NM_002734.5:c.709-80_709-79del MANE Select | NP_002725.1:n.709-80_709-79del | |
| NM_001276289.2:c.709-80_709-79del | NP_001263218.1:n.709-80_709-79del | |
| NM_001278433.2:c.709-80_709-79del | NP_001265362.1:n.709-80_709-79del | |
| NM_212471.3:c.709-80_709-79del | NP_997636.1:n.709-80_709-79del |