Linked Data
dbSNP Id:
rs1174118995
gnomAD v2:
10-79759819-CAGTT-C
gnomAD v3:
10-78000061-CAGTT-C
gnomAD v4:
10-78000061-CAGTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.78000062_78000065del , CM000672.2:g.78000062_78000065del | GRCh38 |
| NC_000010.10:g.79759820_79759823del , CM000672.1:g.79759820_79759823del | GRCh37 |
| NC_000010.9:g.79429826_79429829del | NCBI36 |
| NG_029648.1:g.34476_34479del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698727.1:n.1592_1595del | ||
| ENST00000698728.1:n.2111_2114del | ||
| ENST00000698729.1:n.3657_3660del | ||
| ENST00000698730.1:n.3657_3660del | ||
| ENST00000698731.1:c.2391_2394del | ENSP00000513898.1:p.Thr798SerfsTer13 | |
| ENST00000698732.1:c.*1393_*1396del | ENSP00000513899.1:n.*1393_*1396del | |
| ENST00000698733.1:c.*1719_*1722del | ENSP00000513900.1:n.*1719_*1722del | |
| ENST00000698734.1:c.2532_2535del | ENSP00000513901.1:p.Thr845SerfsTer13 | |
| ENST00000698735.1:n.2647_2650del | ||
| ENST00000698736.1:n.2647_2650del | ||
| ENST00000698737.1:n.2647_2650del | ||
| ENST00000698738.1:n.2647_2650del | ||
| ENST00000698739.1:n.2647_2650del | ||
| ENST00000372371.8:c.2532_2535del MANE Select | ENSP00000361446.3:p.Thr845SerfsTer13 | |
| ENST00000372371.7:c.2532_2535del | ENSP00000361446.3:p.Thr845SerfsTer13 | |
| ENST00000472014.5:n.469+4651_469+4654del | ||
| NM_007055.3:c.2532_2535del | NP_008986.2:p.Thr845SerfsTer13 | |
| NM_007055.4:c.2532_2535del MANE Select | NP_008986.2:p.Thr845SerfsTer13 |