Linked Data
ClinVar Variation Id:
2683637
ClinVar RCV Id:
RCV003480457
dbSNP Id:
rs780411647
ExAC:
1:196716391 GAAC / G
gnomAD v2:
1-196716391-GAAC-G
gnomAD v4:
1-196747261-GAAC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196747266_196747268del , CM000663.2:g.196747266_196747268del | GRCh38 |
| NC_000001.10:g.196716396_196716398del , CM000663.1:g.196716396_196716398del | GRCh37 |
| NC_000001.9:g.194983019_194983021del | NCBI36 |
| NG_007259.1:g.100256_100258del , LRG_47:g.100256_100258del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000470918.2:n.4677_4679del | ||
| ENST00000695970.1:c.3475_3477del | ENSP00000512297.1:p.Thr1159del | |
| ENST00000695971.1:c.3628_3630del | ENSP00000512298.1:p.Thr1210del | |
| ENST00000695972.1:c.*726_*728del | ENSP00000512299.1:n.*726_*728del | |
| ENST00000695973.1:c.*2013_*2015del | ENSP00000512300.1:n.*2013_*2015del | |
| ENST00000695974.1:c.3472_3474del | ENSP00000512301.1:p.Thr1158del | |
| ENST00000695975.1:c.*1776_*1778del | ENSP00000512302.1:n.*1776_*1778del | |
| ENST00000695976.1:c.3460_3462del | ENSP00000512303.1:p.Thr1154del | |
| ENST00000695981.1:c.3580+69_3580+71del | ENSP00000512306.1:n.3580+69_3580+71del | |
| ENST00000695984.1:c.1657_1659del | ENSP00000512309.1:p.Thr553del | |
| ENST00000695986.1:c.*3300_*3302del | ENSP00000512311.1:n.*3300_*3302del | |
| ENST00000695990.1:n.683_685del | ||
| ENST00000696026.1:c.*1931_*1933del | ENSP00000512335.1:n.*1931_*1933del | |
| ENST00000696027.1:c.3643_3645del | ENSP00000512336.1:p.Thr1215del | |
| ENST00000696028.1:c.3577_3579del | ENSP00000512337.1:p.Thr1193del | |
| ENST00000696029.1:c.3643_3645del | ENSP00000512338.1:p.Thr1215del | |
| ENST00000696031.1:c.*3167_*3169del | ENSP00000512340.1:n.*3167_*3169del | |
| ENST00000696032.1:c.3580+69_3580+71del | ENSP00000512341.1:n.3580+69_3580+71del | |
| ENST00000696033.1:c.1160-32531_1160-32529del | ENSP00000512342.1:n.1160-32531_1160-32529... | |
| ENST00000367429.9:c.3649_3651del MANE Select | ENSP00000356399.4:p.Thr1217del | |
| ENST00000367429.8:c.3649_3651del | ENSP00000356399.4:p.Thr1217del | |
| ENST00000466229.5:n.6747_6749del | ||
| NM_000186.3:c.3649_3651del , LRG_47t1:c.3649_3651del | NP_000177.2:p.Thr1217del | |
| XR_001737134.2:n.3835_3837del | ||
| NM_000186.4:c.3649_3651del MANE Select | NP_000177.2:p.Thr1217del |