Linked Data
dbSNP Id:
rs9278466
ExAC:
6:29912413 TG / T
gnomAD v2:
6-29912413-TG-T
gnomAD v3:
6-29944636-TG-T
gnomAD v4:
6-29944636-TG-T
MyVariant Identifiers:
chr6:g.29912414del (hg19)
chr6:g.29944638del (hg38)
chr6:g.29944637del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.29944640del , CM000668.2:g.29944640del | GRCh38 |
| NC_000006.11:g.29912417del , CM000668.1:g.29912417del | GRCh37 |
| NC_000006.10:g.30020396del | NCBI36 |
| NG_029217.2:g.7176del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000638375.2:c.895+243del | ENSP00000492789.2:n.895+243del | |
| ENST00000706892.1:n.1992del | ||
| ENST00000706893.1:c.1064+6del | ENSP00000516609.1:n.1064+6del | |
| ENST00000706894.1:c.1012+24del | ENSP00000516610.1:n.1012+24del | |
| ENST00000706895.1:n.1414del | ||
| ENST00000706896.1:n.1890del | ||
| ENST00000706897.1:n.1312del | ||
| ENST00000706898.1:c.1030+6del | ENSP00000516611.1:n.1030+6del | |
| ENST00000706899.1:n.1866+24del | ||
| ENST00000706900.1:c.928+24del | ENSP00000516617.1:n.928+24del | |
| ENST00000706901.1:c.1012+24del | ENSP00000516612.1:n.1012+24del | |
| ENST00000706902.1:c.1012+24del | ENSP00000516613.1:n.1012+24del | |
| ENST00000706903.1:c.1012+24del | ENSP00000516614.1:n.1012+24del | |
| ENST00000706904.1:c.1012+24del | ENSP00000516615.1:n.1012+24del | |
| ENST00000706905.1:c.1012+24del | ENSP00000516616.1:n.1012+24del | |
| ENST00000376809.10:c.1012+24del MANE Select | ENSP00000366005.5:n.1012+24del | |
| ENST00000638375.1:c.895+243del | ENSP00000492789.1:n.895+243del | |
| ENST00000376802.2:c.895+243del | ENSP00000365998.2:n.895+243del | |
| ENST00000376806.9:c.1030+6del | ENSP00000366002.5:n.1030+6del | |
| ENST00000376809.9:c.1012+24del | ENSP00000366005.5:n.1012+24del | |
| ENST00000396634.5:c.1012+24del | ENSP00000379873.1:n.1012+24del | |
| ENST00000461903.1:n.1271+6del | ||
| ENST00000479320.5:n.1253+24del | ||
| ENST00000495183.5:n.1255+24del | ||
| ENST00000496081.5:n.853del | ||
| NM_002116.7:c.1012+24del | NP_002107.3:n.1012+24del | |
| NM_002116.8:c.1012+24del MANE Select | NP_002107.3:n.1012+24del |