Linked Data
dbSNP Id:
rs1932649635
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.39244624_39244653del , CM000684.2:g.39244624_39244653del | GRCh38 |
| NC_000022.10:g.39640629_39640658del , CM000684.1:g.39640629_39640658del | GRCh37 |
| NC_000022.9:g.37970575_37970604del | NCBI36 |
| NG_012111.1:g.5304_5333del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331163.11:c.-686_-657del MANE Select | ENSP00000330382.6:n.-686_-657del | |
| ENST00000331163.10:c.-686_-657del | ENSP00000330382.6:n.-686_-657del | |
| NM_002608.2:c.-686_-657del | NP_002599.1:n.-686_-657del | |
| NM_002608.3:c.-686_-657del | NP_002599.1:n.-686_-657del | |
| NM_002608.4:c.-686_-657del MANE Select | NP_002599.1:n.-686_-657del |