Linked Data
ClinVar Variation Id:
12675
ClinVar RCV Id:
RCV000013511
dbSNP Id:
rs281864801
gnomAD v4:
17-68527823-GTTATTT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.68527833_68527838del , CM000679.2:g.68527833_68527838del | GRCh38 |
| NC_000017.10:g.66523974_66523979del , CM000679.1:g.66523974_66523979del | GRCh37 |
| NC_000017.9:g.64035569_64035574del | NCBI36 |
| NG_007093.3:g.119211_119216del , LRG_514:g.119211_119216del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000588188.7:c.709-7_709-2del | ENSP00000468106.2:n.709-7_709-2del | |
| ENST00000711037.1:c.709-7_709-2del | ENSP00000518555.1:n.709-7_709-2del | |
| ENST00000585427.6:c.709-7_709-2del | ENSP00000464715.2:n.709-7_709-2del | |
| ENST00000585981.6:c.709-7_709-2del | ENSP00000467311.2:n.709-7_709-2del | |
| ENST00000588178.6:c.709-7_709-2del | ENSP00000465013.2:n.709-7_709-2del | |
| ENST00000589017.6:c.709-7_709-2del | ENSP00000465445.2:n.709-7_709-2del | |
| ENST00000589480.6:c.709-7_709-2del | ENSP00000466649.2:n.709-7_709-2del | |
| ENST00000592800.6:c.709-7_709-2del | ENSP00000466314.2:n.709-7_709-2del | |
| ENST00000686019.1:n.828-7_828-2del | ||
| ENST00000689501.1:n.2901-7_2901-2del | ||
| ENST00000691392.1:n.1676-7_1676-2del | ||
| ENST00000589228.6:c.709-7_709-2del MANE Select | ENSP00000464977.2:n.709-7_709-2del | |
| ENST00000358598.6:c.709-7_709-2del | ENSP00000351410.1:n.709-7_709-2del | |
| ENST00000392710.8:c.*324-7_*324-2del | ENSP00000376474.4:n.*324-7_*324-2del | |
| ENST00000392711.5:c.709-7_709-2del | ENSP00000376475.1:n.709-7_709-2del | |
| ENST00000536854.6:c.709-7_709-2del | ENSP00000445625.1:n.709-7_709-2del | |
| ENST00000585907.1:n.250_255del | ||
| ENST00000585981.5:c.709-7_709-2del | ENSP00000467311.1:n.709-7_709-2del | |
| ENST00000586397.5:c.709-7_709-2del | ENSP00000466459.1:n.709-7_709-2del | |
| ENST00000586541.5:c.32-7_32-2del | ||
| ENST00000588188.6:c.709-7_709-2del | ENSP00000468106.2:n.709-7_709-2del | |
| ENST00000589228.5:c.709-7_709-2del | ENSP00000464977.1:n.709-7_709-2del | |
| ENST00000592800.5:c.119-7_119-2del | ||
| NM_001276289.1:c.709-7_709-2del | NP_001263218.1:n.709-7_709-2del | |
| NM_001276290.1:c.709-7_709-2del | NP_001263219.1:n.709-7_709-2del | |
| NM_001278433.1:c.709-7_709-2del | NP_001265362.1:n.709-7_709-2del | |
| NM_002734.4:c.709-7_709-2del , LRG_514t1:c.709-7_709-2del | NP_002725.1:n.709-7_709-2del | |
| NM_212471.2:c.709-7_709-2del | NP_997636.1:n.709-7_709-2del | |
| NM_212472.2:c.709-7_709-2del , LRG_514t2:c.709-7_709-2del | NP_997637.1:n.709-7_709-2del | |
| XM_011524983.1:c.709-7_709-2del | XP_011523285.1:n.709-7_709-2del | |
| XM_011524984.1:c.709-7_709-2del | XP_011523286.1:n.709-7_709-2del | |
| XM_011524985.1:c.709-7_709-2del | XP_011523287.1:n.709-7_709-2del | |
| XM_011524983.3:c.709-7_709-2del | XP_011523285.1:n.709-7_709-2del | |
| XM_011524984.3:c.709-7_709-2del | XP_011523286.1:n.709-7_709-2del | |
| XM_011524985.3:c.709-7_709-2del | XP_011523287.1:n.709-7_709-2del | |
| NM_001369389.1:c.709-7_709-2del | NP_001356318.1:n.709-7_709-2del | |
| NM_001369390.1:c.709-7_709-2del | NP_001356319.1:n.709-7_709-2del | |
| NM_002734.5:c.709-7_709-2del MANE Select | NP_002725.1:n.709-7_709-2del | |
| NM_001276289.2:c.709-7_709-2del | NP_001263218.1:n.709-7_709-2del | |
| NM_001278433.2:c.709-7_709-2del | NP_001265362.1:n.709-7_709-2del | |
| NM_212471.3:c.709-7_709-2del | NP_997636.1:n.709-7_709-2del |