Linked Data
dbSNP Id:
rs1468827677
gnomAD v2:
19-11533539-ACCCAGCC-A
gnomAD v4:
19-11422871-ACCCAGCC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11422874_11422880del , CM000681.2:g.11422874_11422880del | GRCh38 |
| NC_000019.9:g.11533542_11533548del , CM000681.1:g.11533542_11533548del | GRCh37 |
| NC_000019.8:g.11394542_11394548del | NCBI36 |
| NG_041777.1:g.17905_17911del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356392.9:c.1117-17_1117-11del MANE Select | ENSP00000348757.3:n.1117-17_1117-11del | |
| ENST00000356392.8:c.1117-17_1117-11del | ENSP00000348757.3:n.1117-17_1117-11del | |
| ENST00000586836.5:c.544-17_544-11del | ENSP00000467429.1:n.544-17_544-11del | |
| ENST00000591179.5:c.937-17_937-11del | ENSP00000466800.1:n.937-17_937-11del | |
| ENST00000591345.5:c.*1036-17_*1036-11del | ENSP00000467313.1:n.*1036-17_*1036-11del | |
| NM_001302453.1:c.955-17_955-11del | NP_001289382.1:n.955-17_955-11del | |
| NM_001302454.1:c.937-17_937-11del | NP_001289383.1:n.937-17_937-11del | |
| NM_145045.4:c.1117-17_1117-11del | NP_659482.3:n.1117-17_1117-11del | |
| XM_017026241.1:c.*11-17_*11-11del | XP_016881730.1:n.*11-17_*11-11del | |
| NM_145045.5:c.1117-17_1117-11del MANE Select | NP_659482.3:n.1117-17_1117-11del | |
| NM_001302454.2:c.937-17_937-11del | NP_001289383.1:n.937-17_937-11del |