Linked Data
dbSNP Id:
rs1943251087
gnomAD v3:
11-89178222-AGTGCTCT-A
gnomAD v4:
11-89178222-AGTGCTCT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.89178224_89178230del , CM000673.2:g.89178224_89178230del | GRCh38 |
| NC_000011.9:g.88911392_88911398del , CM000673.1:g.88911392_88911398del | GRCh37 |
| NC_000011.8:g.88551040_88551046del | NCBI36 |
| NG_008748.1:g.5353_5359del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263321.6:c.271_277del MANE Select | ENSP00000263321.4:p.Cys91AlafsTer27 | |
| ENST00000263321.5:c.271_277del | ENSP00000263321.4:p.Cys91AlafsTer27 | |
| ENST00000526139.1:n.332_338del | ||
| NM_000372.4:c.271_277del | NP_000363.1:p.Cys91AlafsTer27 | |
| XM_011542970.1:c.271_277del | XP_011541272.1:p.Cys91AlafsTer27 | |
| XM_011542970.2:c.271_277del | XP_011541272.1:p.Cys91AlafsTer27 | |
| XR_001748321.1:n.2718-64696_2718-64690del | ||
| XR_001748322.1:n.2733-64696_2733-64690del | ||
| NM_000372.5:c.271_277del MANE Select | NP_000363.1:p.Cys91AlafsTer27 |