Linked Data
dbSNP Id:
rs761850089
ExAC:
11:47354720 TG / T
gnomAD v2:
11-47354720-TG-T
gnomAD v4:
11-47333169-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47333173del , CM000673.2:g.47333173del | GRCh38 |
| NC_000011.9:g.47354724del , CM000673.1:g.47354724del | GRCh37 |
| NC_000011.8:g.47311300del | NCBI36 |
| NG_007667.1:g.24533del , LRG_386:g.24533del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545968.6:c.3330+24del MANE Select | ENSP00000442795.1:n.3330+24del | |
| ENST00000256993.8:c.3330+24del | ENSP00000256993.5:n.3330+24del | |
| ENST00000399249.6:c.3330+24del | ENSP00000382193.2:n.3330+24del | |
| ENST00000545968.5:c.3330+24del | ENSP00000442795.1:n.3330+24del | |
| NM_000256.3:c.3330+24del , LRG_386t1:c.3330+24del MANE Select | NP_000247.2:n.3330+24del | |
| XM_011520117.1:c.3312+24del | XP_011518419.1:n.3312+24del | |
| XM_011520118.1:c.3249+24del | XP_011518420.1:n.3249+24del |