Linked Data
dbSNP Id:
rs199475570
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102894737_102894920del , CM000674.2:g.102894737_102894920del | GRCh38 |
| NC_000012.11:g.103288515_103288698del , CM000674.1:g.103288515_103288698del | GRCh37 |
| NC_000012.10:g.101812645_101812828del | NCBI36 |
| NG_008690.1:g.27686_27869del | |
| NG_008690.2:g.68494_68677del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553106.6:c.170_352+1del | ||
| ENST00000307000.7:c.155_337+1del | ||
| ENST00000548928.1:n.92_274+1del | ||
| ENST00000549111.5:n.266_448+1del | ||
| ENST00000550978.6:c.154_336+1del | ||
| ENST00000551337.5:c.170_352+1del | ||
| ENST00000551988.5:n.259_441+1del | ||
| ENST00000553106.5:c.170_352+1del | ||
| NM_000277.1:c.170_352+1del | ||
| XM_011538422.1:c.170_352+1del | ||
| NM_000277.2:c.170_352+1del | ||
| NM_001354304.1:c.170_352+1del | ||
| XM_017019370.2:c.170_352+1del | ||
| NM_000277.3:c.170_352+1del | ||
| NM_001354304.2:c.170_352+1del |