Linked Data
dbSNP Id:
rs778494996
ExAC:
6:29912395 TGGAGAA / T
gnomAD v2:
6-29912395-TGGAGAA-T
gnomAD v3:
6-29944618-TGGAGAA-T
gnomAD v4:
6-29944618-TGGAGAA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.29944621_29944626del , CM000668.2:g.29944621_29944626del | GRCh38 |
| NC_000006.11:g.29912398_29912403del , CM000668.1:g.29912398_29912403del | GRCh37 |
| NC_000006.10:g.30020377_30020382del | NCBI36 |
| NG_029217.2:g.7157_7162del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000638375.2:c.895+224_895+229del | ENSP00000492789.2:n.895+224_895+229del | |
| ENST00000706892.1:n.1973_1978del | ||
| ENST00000706893.1:c.1051_1056del | ENSP00000516609.1:p.Arg351_Arg352del | |
| ENST00000706894.1:c.1012+5_1012+10del | ENSP00000516610.1:n.1012+5_1012+10del | |
| ENST00000706895.1:n.1395_1400del | ||
| ENST00000706896.1:n.1871_1876del | ||
| ENST00000706897.1:n.1293_1298del | ||
| ENST00000706898.1:c.1017_1022del | ENSP00000516611.1:p.Glu340_Gly341del | |
| ENST00000706899.1:n.1866+5_1866+10del | ||
| ENST00000706900.1:c.928+5_928+10del | ENSP00000516617.1:n.928+5_928+10del | |
| ENST00000706901.1:c.1012+5_1012+10del | ENSP00000516612.1:n.1012+5_1012+10del | |
| ENST00000706902.1:c.1012+5_1012+10del | ENSP00000516613.1:n.1012+5_1012+10del | |
| ENST00000706903.1:c.1012+5_1012+10del | ENSP00000516614.1:n.1012+5_1012+10del | |
| ENST00000706904.1:c.1012+5_1012+10del | ENSP00000516615.1:n.1012+5_1012+10del | |
| ENST00000706905.1:c.1012+5_1012+10del | ENSP00000516616.1:n.1012+5_1012+10del | |
| ENST00000376809.10:c.1012+5_1012+10del MANE Select | ENSP00000366005.5:n.1012+5_1012+10del | |
| ENST00000638375.1:c.895+224_895+229del | ENSP00000492789.1:n.895+224_895+229del | |
| ENST00000376802.2:c.895+224_895+229del | ENSP00000365998.2:n.895+224_895+229del | |
| ENST00000376806.9:c.1017_1022del | ENSP00000366002.5:p.Glu340_Gly341del | |
| ENST00000376809.9:c.1012+5_1012+10del | ENSP00000366005.5:n.1012+5_1012+10del | |
| ENST00000396634.5:c.1012+5_1012+10del | ENSP00000379873.1:n.1012+5_1012+10del | |
| ENST00000461903.1:n.1258_1263del | ||
| ENST00000479320.5:n.1253+5_1253+10del | ||
| ENST00000495183.5:n.1255+5_1255+10del | ||
| ENST00000496081.5:n.834_839del | ||
| NM_002116.7:c.1012+5_1012+10del | NP_002107.3:n.1012+5_1012+10del | |
| NM_002116.8:c.1012+5_1012+10del MANE Select | NP_002107.3:n.1012+5_1012+10del |