Linked Data
dbSNP Id:
rs755017743
ExAC:
6:80198788 CT / C
gnomAD v2:
6-80198788-CT-C
gnomAD v4:
6-79489071-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.79489072del , CM000668.2:g.79489072del | GRCh38 |
| NC_000006.11:g.80198789del , CM000668.1:g.80198789del | GRCh37 |
| NC_000006.10:g.80255508del | NCBI36 |
| NG_016011.1:g.53359del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369846.9:c.1231+12del MANE Select | ENSP00000358861.4:n.1231+12del | |
| ENST00000369846.8:c.1231+12del | ENSP00000358861.4:n.1231+12del | |
| ENST00000392959.5:c.1231+12del | ENSP00000376686.1:n.1231+12del | |
| ENST00000467898.3:c.1243del | ENSP00000474463.1:p.Ser415ValfsTer6 | |
| NM_001122769.2:c.1231+12del | NP_001116241.1:n.1231+12del | |
| NM_181714.3:c.1231+12del | NP_859065.2:n.1231+12del | |
| XM_005248665.3:c.1231+12del | XP_005248722.1:n.1231+12del | |
| XM_011535504.1:c.1231+12del | XP_011533806.1:n.1231+12del | |
| XR_942715.1:n.1183del | ||
| XR_942716.1:n.1145del | ||
| XR_942717.1:n.1417del | ||
| XM_005248665.4:c.1231+12del | XP_005248722.1:n.1231+12del | |
| XR_001744213.1:n.2808del | ||
| XR_001744214.1:n.2770del | ||
| NM_001122769.3:c.1231+12del MANE Select | NP_001116241.1:n.1231+12del | |
| NM_181714.4:c.1231+12del | NP_859065.2:n.1231+12del |