Linked Data
ClinVar Variation Id:
217677
ClinVar RCV Id:
RCV000201670
RCV000241545
RCV000414929
RCV000691391
RCV001272923
RCV000665372
RCV001197092
dbSNP Id:
rs754279998
ExAC:
17:56285513 TAGG / T
gnomAD v2:
17-56285513-TAGG-T
gnomAD v3:
17-58208152-TAGG-T
gnomAD v4:
17-58208152-TAGG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58208155_58208157del , CM000679.2:g.58208155_58208157del | GRCh38 |
| NC_000017.10:g.56285516_56285518del , CM000679.1:g.56285516_56285518del | GRCh37 |
| NC_000017.9:g.53640515_53640517del | NCBI36 |
| NG_013032.1:g.16451_16453del , LRG_687:g.16451_16453del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313863.11:c.1115_1117del | ENSP00000316631.6:p.Ser372del | |
| ENST00000393119.7:c.1115_1117del MANE Select | ENSP00000376827.2:p.Ser372del | |
| ENST00000537529.7:c.686_688del | ENSP00000442096.3:p.Ser229del | |
| ENST00000580127.6:c.1115_1117del | ENSP00000462423.2:p.Ser372del | |
| ENST00000585134.2:c.1115_1117del | ENSP00000463826.2:p.Ser372del | |
| ENST00000675753.2:c.*734_*736del | ENSP00000502156.1:n.*734_*736del | |
| ENST00000676787.1:c.986_988del | ENSP00000503999.1:p.Ser329del | |
| ENST00000677111.1:c.*52_*54del | ENSP00000504282.1:n.*52_*54del | |
| ENST00000677160.1:n.2389_2391del | ||
| ENST00000677416.1:n.1140_1142del | ||
| ENST00000677486.1:c.*459_*461del | ENSP00000503852.1:n.*459_*461del | |
| ENST00000677709.1:n.1140_1142del | ||
| ENST00000678011.1:n.1478_1480del | ||
| ENST00000678432.1:c.*734_*736del | ENSP00000504452.1:n.*734_*736del | |
| ENST00000678463.1:c.1115_1117del | ENSP00000502984.1:p.Ser372del | |
| ENST00000678568.1:c.*522_*524del | ENSP00000504754.1:n.*522_*524del | |
| ENST00000678641.1:c.*459_*461del | ENSP00000503159.1:n.*459_*461del | |
| ENST00000678763.1:n.893_895del | ||
| ENST00000313863.10:c.1115_1117del | ENSP00000316631.6:p.Ser372del | |
| ENST00000393119.6:c.1115_1117del | ENSP00000376827.2:p.Ser372del | |
| ENST00000393120.6:c.*522_*524del | ENSP00000376828.2:n.*522_*524del | |
| ENST00000537529.6:c.1085_1087del | ENSP00000442096.2:p.Ser362del | |
| ENST00000577315.5:c.168_170del | ||
| ENST00000577824.5:c.668_670del | ||
| ENST00000579358.1:n.553_555del | ||
| ENST00000585134.1:c.338_340del | ENSP00000463826.1:p.Ser113del | |
| NM_001165927.1:c.1085_1087del , LRG_687t2:c.1085_1087del | NP_001159399.1:p.Ser362del | |
| NM_017777.3:c.1115_1117del , LRG_687t1:c.1115_1117del | NP_060247.2:p.Ser372del | |
| XM_005257483.3:c.1115_1117del | XP_005257540.1:p.Ser372del | |
| XM_005257485.3:c.686_688del | XP_005257542.1:p.Ser229del | |
| XM_005257486.3:c.506_508del | XP_005257543.1:p.Ser169del | |
| XM_006721965.2:c.506_508del | XP_006722028.1:p.Ser169del | |
| XM_011524957.1:c.1124_1126del | XP_011523259.1:p.Ser375del | |
| XM_011524958.1:c.1124_1126del | XP_011523260.1:p.Ser375del | |
| XM_011524959.1:c.1124_1126del | XP_011523261.1:p.Ser375del | |
| XM_011524960.1:c.1124_1126del | XP_011523262.1:p.Ser375del | |
| XR_934494.1:n.1129_1131del | ||
| NM_001321268.1:c.506_508del | NP_001308197.1:p.Ser169del | |
| NM_001321269.1:c.1115_1117del | NP_001308198.1:p.Ser372del | |
| NM_001330397.1:c.1115_1117del | NP_001317326.1:p.Ser372del | |
| XM_005257485.4:c.686_688del | XP_005257542.1:p.Ser229del | |
| XM_006721965.3:c.506_508del | XP_006722028.1:p.Ser169del | |
| XM_011524957.2:c.1124_1126del | XP_011523259.1:p.Ser375del | |
| XM_011524958.2:c.1124_1126del | XP_011523260.1:p.Ser375del | |
| XM_011524959.2:c.1124_1126del | XP_011523261.1:p.Ser375del | |
| XM_011524960.2:c.1124_1126del | XP_011523262.1:p.Ser375del | |
| XM_017024804.2:c.1115_1117del | XP_016880293.1:p.Ser372del | |
| XM_017024805.1:c.686_688del | XP_016880294.1:p.Ser229del | |
| XR_002958042.1:n.1126_1128del | ||
| NM_001321268.2:c.506_508del | NP_001308197.1:p.Ser169del | |
| NM_001321269.2:c.1115_1117del | NP_001308198.1:p.Ser372del | |
| NM_001330397.2:c.1115_1117del | NP_001317326.1:p.Ser372del | |
| NM_017777.4:c.1115_1117del MANE Select | NP_060247.2:p.Ser372del |