Linked Data
dbSNP Id:
rs2138654531
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23420183_23420189del , CM000676.2:g.23420183_23420189del | GRCh38 |
| NC_000014.8:g.23889392_23889398del , CM000676.1:g.23889392_23889398del | GRCh37 |
| NC_000014.7:g.22959232_22959238del | NCBI36 |
| NG_007884.1:g.20473_20479del , LRG_384:g.20473_20479del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.3382_3388del MANE Select | ENSP00000347507.3:p.Ala1128LeufsTer? | |
| ENST00000355349.3:c.3382_3388del | ENSP00000347507.3:p.Ala1128LeufsTer? | |
| NM_000257.3:c.3382_3388del | NP_000248.2:p.Ala1128LeufsTer? | |
| XR_245686.3:n.3490_3496del | ||
| XM_017021340.1:c.3382_3388del | XP_016876829.1:p.Ala1128LeufsTer? | |
| NM_000257.4:c.3382_3388del MANE Select | NP_000248.2:p.Ala1128LeufsTer? |