Linked Data
ClinVar Variation Id:
56280
dbSNP Id:
rs386833729
gnomAD v2:
16-28497785-CCT-C
gnomAD v4:
16-28486464-CCT-C
PubMed:
PMID:21990111
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28486465_28486466del , CM000678.2:g.28486465_28486466del | GRCh38 |
| NC_000016.9:g.28497786_28497787del , CM000678.1:g.28497786_28497787del | GRCh37 |
| NC_000016.8:g.28405287_28405288del | NCBI36 |
| NG_008654.2:g.10837_10838del , LRG_689:g.10837_10838del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333496.14:c.486_487del | ENSP00000329171.9:p.Gly163AspfsTer? | |
| ENST00000355477.10:c.533+112_533+113del | ENSP00000347660.7:n.533+112_533+113del | |
| ENST00000357857.14:c.396_397del | ENSP00000350523.9:p.Gly133AspfsTer? | |
| ENST00000359984.12:c.558_559del | ENSP00000353073.9:p.Gly187AspfsTer? | |
| ENST00000360019.8:c.486_487del | ENSP00000353116.3:p.Gly163AspfsTer? | |
| ENST00000395653.9:c.218+990_218+991del | ENSP00000379014.5:n.218+990_218+991del | |
| ENST00000561505.2:c.*82_*83del | ENSP00000457615.2:n.*82_*83del | |
| ENST00000561689.6:n.843_844del | ||
| ENST00000565316.6:c.558_559del | ENSP00000456117.1:p.Gly187AspfsTer? | |
| ENST00000565778.6:c.308+990_308+991del | ENSP00000458015.1:n.308+990_308+991del | |
| ENST00000566083.6:n.1016_1017del | ||
| ENST00000566824.6:n.538_539del | ||
| ENST00000567495.6:c.*17_*18del | ENSP00000456013.2:n.*17_*18del | |
| ENST00000567963.6:c.396_397del | ENSP00000455387.2:p.Gly133AspfsTer? | |
| ENST00000568076.6:n.685_686del | ||
| ENST00000568422.6:c.460+990_460+991del | ENSP00000455549.2:n.460+990_460+991del | |
| ENST00000568452.6:n.661_662del | ||
| ENST00000568472.6:n.553+990_553+991del | ||
| ENST00000568497.6:c.-292-2348_-292-2347del | ENSP00000456414.2:n.-292-2348_-292-2347del | |
| ENST00000568558.6:c.380+990_380+991del | ENSP00000455603.2:n.380+990_380+991del | |
| ENST00000569430.7:c.558_559del | ENSP00000454229.1:p.Gly187AspfsTer? | |
| ENST00000628023.3:c.223-2348_223-2347del | ENSP00000486178.1:n.223-2348_223-2347del | |
| ENST00000635861.1:c.*82_*83del | ENSP00000490034.1:n.*82_*83del | |
| ENST00000635887.1:c.558_559del | ENSP00000490709.1:p.Gly187AspfsTer? | |
| ENST00000635958.1:n.669_670del | ||
| ENST00000635973.1:c.309_310del | ENSP00000490363.1:p.Gly104AspfsTer? | |
| ENST00000636017.1:c.*82_*83del | ENSP00000490538.1:n.*82_*83del | |
| ENST00000636078.1:n.600_601del | ||
| ENST00000636147.2:c.558_559del MANE Select | ENSP00000490105.1:p.Gly187AspfsTer? | |
| ENST00000636172.1:c.*82_*83del | ENSP00000490505.1:n.*82_*83del | |
| ENST00000636228.1:c.371+112_371+113del | ENSP00000489627.1:n.371+112_371+113del | |
| ENST00000636351.1:n.278_279del | ||
| ENST00000636503.1:c.558_559del | ENSP00000489824.1:p.Gly187AspfsTer? | |
| ENST00000636766.1:c.558_559del | ENSP00000489841.1:p.Gly187AspfsTer? | |
| ENST00000636839.1:n.710_711del | ||
| ENST00000636853.1:n.1473_1474del | ||
| ENST00000636866.1:c.558_559del | ENSP00000490880.1:p.Gly187AspfsTer? | |
| ENST00000636977.1:n.1626_1627del | ||
| ENST00000637100.1:c.558_559del | ENSP00000490394.1:p.Gly187AspfsTer? | |
| ENST00000637107.1:c.*82_*83del | ENSP00000490248.1:n.*82_*83del | |
| ENST00000637184.1:c.558_559del | ENSP00000489952.1:p.Gly187AspfsTer? | |
| ENST00000637299.1:c.*367_*368del | ENSP00000489823.1:n.*367_*368del | |
| ENST00000637376.1:c.558_559del | ENSP00000490758.1:p.Gly187AspfsTer? | |
| ENST00000637578.1:c.*82_*83del | ENSP00000490206.1:n.*82_*83del | |
| ENST00000637699.1:c.460+990_460+991del | ENSP00000490049.1:n.460+990_460+991del | |
| ENST00000637871.1:c.*82_*83del | ENSP00000490670.1:n.*82_*83del | |
| ENST00000637985.1:c.*497_*498del | ENSP00000490932.1:n.*497_*498del | |
| ENST00000333496.13:c.486_487del | ENSP00000329171.9:p.Gly163AspfsTer? | |
| ENST00000355477.9:c.460+990_460+991del | ENSP00000347660.6:n.460+990_460+991del | |
| ENST00000357806.11:c.380+990_380+991del | ENSP00000350457.7:n.380+990_380+991del | |
| ENST00000357857.13:c.396_397del | ENSP00000350523.9:p.Gly133AspfsTer? | |
| ENST00000359984.11:c.371+112_371+113del | ENSP00000353073.8:n.371+112_371+113del | |
| ENST00000360019.6:c.558_559del | ENSP00000353116.2:p.Gly187AspfsTer? | |
| ENST00000395653.8:c.258_259del | ENSP00000379014.4:p.Gly87AspfsTer? | |
| ENST00000561505.1:c.258_259del | ENSP00000457615.1:p.Gly87AspfsTer? | |
| ENST00000561689.5:n.399_400del | ||
| ENST00000563874.5:n.1912_1913del | ||
| ENST00000564574.5:n.606_607del | ||
| ENST00000565047.1:n.271+990_271+991del | ||
| ENST00000565140.5:c.460+990_460+991del | ENSP00000455342.1:n.460+990_460+991del | |
| ENST00000565316.5:c.558_559del | ENSP00000456117.1:p.Gly187AspfsTer? | |
| ENST00000565688.5:c.309_310del | ENSP00000456122.1:p.Gly104AspfsTer? | |
| ENST00000565778.5:c.308+990_308+991del | ENSP00000458015.1:n.308+990_308+991del | |
| ENST00000566057.5:c.291+990_291+991del | ENSP00000456693.1:n.291+990_291+991del | |
| ENST00000566083.5:n.789_790del | ||
| ENST00000566824.5:n.607_608del | ||
| ENST00000567495.5:c.460+990_460+991del | ENSP00000456013.1:n.460+990_460+991del | |
| ENST00000567963.5:c.558_559del | ENSP00000455387.1:p.Gly187AspfsTer? | |
| ENST00000568076.5:n.460+990_460+991del | ||
| ENST00000568224.4:c.324_325del | ENSP00000454253.1:p.Gly109AspfsTer? | |
| ENST00000568422.5:c.313+112_313+113del | ENSP00000455549.1:n.313+112_313+113del | |
| ENST00000568452.5:n.558_559del | ||
| ENST00000568472.5:n.158-2348_158-2347del | ||
| ENST00000568497.5:c.223-2348_223-2347del | ENSP00000456414.1:n.223-2348_223-2347del | |
| ENST00000568558.5:c.218+990_218+991del | ENSP00000455603.1:n.218+990_218+991del | |
| ENST00000569030.5:c.460+990_460+991del | ENSP00000454680.1:n.460+990_460+991del | |
| ENST00000569430.5:c.558_559del | ENSP00000454229.1:p.Gly187AspfsTer? | |
| ENST00000628023.2:c.223-2348_223-2347del | ENSP00000486178.1:n.223-2348_223-2347del | |
| ENST00000631023.2:c.558_559del | ENSP00000486616.1:p.Gly187AspfsTer? | |
| NM_000086.2:c.558_559del , LRG_689t1:c.558_559del | NP_000077.1:p.Gly187AspfsTer? | |
| NM_001042432.1:c.558_559del , LRG_689t2:c.558_559del | NP_001035897.1:p.Gly187AspfsTer? | |
| NM_001286104.1:c.486_487del | NP_001273033.1:p.Gly163AspfsTer? | |
| NM_001286105.1:c.258_259del | NP_001273034.1:p.Gly87AspfsTer? | |
| NM_001286109.1:c.324_325del | NP_001273038.1:p.Gly109AspfsTer? | |
| NM_001286110.1:c.396_397del | NP_001273039.1:p.Gly133AspfsTer? | |
| NM_001042432.2:c.558_559del MANE Select | NP_001035897.1:p.Gly187AspfsTer? | |
| NM_001286104.2:c.486_487del | NP_001273033.1:p.Gly163AspfsTer? | |
| NM_001286105.2:c.258_259del | NP_001273034.1:p.Gly87AspfsTer? | |
| NM_001286109.2:c.324_325del | NP_001273038.1:p.Gly109AspfsTer? | |
| NM_001286110.2:c.396_397del | NP_001273039.1:p.Gly133AspfsTer? |