Linked Data
dbSNP Id:
rs1194261907
gnomAD v2:
12-7945641-AGTGTCGC-A
gnomAD v3:
12-7793045-AGTGTCGC-A
gnomAD v4:
12-7793045-AGTGTCGC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.7793046_7793052del , CM000674.2:g.7793046_7793052del | GRCh38 |
| NC_000012.11:g.7945642_7945648del , CM000674.1:g.7945642_7945648del | GRCh37 |
| NC_000012.10:g.7836909_7836915del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000229307.9:c.248_254del MANE Select | ENSP00000229307.4:p.Ser83LysfsTer? | |
| ENST00000229307.8:c.248_254del | ENSP00000229307.4:p.Ser83LysfsTer? | |
| ENST00000526286.1:c.248_254del | ENSP00000435288.1:p.Ser83LysfsTer? | |
| ENST00000526434.2:n.392_398del | ||
| ENST00000541267.5:c.176_182del | ENSP00000444434.1:p.Ser59LysfsTer? | |
| NM_001297698.1:c.248_254del | NP_001284627.1:p.Ser83LysfsTer? | |
| NM_024865.3:c.248_254del | NP_079141.2:p.Ser83LysfsTer? | |
| XM_011520850.1:c.248_254del | XP_011519152.1:p.Ser83LysfsTer? | |
| XM_011520851.1:c.176_182del | XP_011519153.1:p.Ser59LysfsTer? | |
| XM_011520852.1:c.-125_-119del | XP_011519154.1:n.-125_-119del | |
| NM_024865.4:c.248_254del MANE Select | NP_079141.2:p.Ser83LysfsTer? | |
| NM_001297698.2:c.248_254del | NP_001284627.1:p.Ser83LysfsTer? |