Linked Data
dbSNP Id:
rs2049535925
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.31660184_31660186del , CM000683.2:g.31660184_31660186del | GRCh38 |
| NC_000021.8:g.33032497_33032499del , CM000683.1:g.33032497_33032499del | GRCh37 |
| NC_000021.7:g.31954368_31954370del | NCBI36 |
| NG_008689.1:g.5563_5565del , LRG_652:g.5563_5565del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270142.11:c.72+343_72+345del MANE Select | ENSP00000270142.7:n.72+343_72+345del | |
| ENST00000270142.10:c.72+343_72+345del | ENSP00000270142.6:n.72+343_72+345del | |
| ENST00000389995.4:c.15+400_15+402del | ENSP00000374645.4:n.15+400_15+402del | |
| ENST00000470944.1:n.476_478del | ||
| ENST00000476106.5:n.149+343_149+345del | ||
| NM_000454.4:c.72+343_72+345del , LRG_652t1:c.72+343_72+345del | NP_000445.1:n.72+343_72+345del | |
| NM_000454.5:c.72+343_72+345del MANE Select | NP_000445.1:n.72+343_72+345del |