Linked Data
dbSNP Id:
rs1907673237
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.34255981_34255994del , CM000679.2:g.34255981_34255994del | GRCh38 |
| NC_000017.10:g.32583000_32583013del , CM000679.1:g.32583000_32583013del | GRCh37 |
| NC_000017.9:g.29607113_29607126del | NCBI36 |
| NG_012123.1:g.5705_5718del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000580907.6:c.77-241_77-228del | ENSP00000462156.1:n.77-241_77-228del | |
| ENST00000624362.2:n.697_710del | ||
| ENST00000225831.4:c.77-241_77-228del MANE Select | ENSP00000225831.4:n.77-241_77-228del | |
| ENST00000580907.5:c.77-241_77-228del | ENSP00000462156.1:n.77-241_77-228del | |
| ENST00000624362.1:n.764_777del | ||
| NM_002982.3:c.77-241_77-228del | NP_002973.1:n.77-241_77-228del | |
| NM_002982.4:c.77-241_77-228del MANE Select | NP_002973.1:n.77-241_77-228del |