Linked Data
dbSNP Id:
rs1264972035
gnomAD v2:
11-47365017-GC-G
gnomAD v3:
11-47343466-GC-G
gnomAD v4:
11-47343466-GC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47343472del , CM000673.2:g.47343472del | GRCh38 |
| NC_000011.9:g.47365023del , CM000673.1:g.47365023del | GRCh37 |
| NC_000011.8:g.47321599del | NCBI36 |
| NG_007667.1:g.14236del , LRG_386:g.14236del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545968.6:c.1223+25del MANE Select | ENSP00000442795.1:n.1223+25del | |
| ENST00000256993.8:c.1223+25del | ENSP00000256993.5:n.1223+25del | |
| ENST00000399249.6:c.1223+25del | ENSP00000382193.2:n.1223+25del | |
| ENST00000544791.1:c.1223+25del | ENSP00000444259.1:n.1223+25del | |
| ENST00000545968.5:c.1223+25del | ENSP00000442795.1:n.1223+25del | |
| NM_000256.3:c.1223+25del , LRG_386t1:c.1223+25del MANE Select | NP_000247.2:n.1223+25del | |
| XM_011520117.1:c.1205+25del | XP_011518419.1:n.1205+25del | |
| XM_011520118.1:c.1223+25del | XP_011518420.1:n.1223+25del |