Linked Data
dbSNP Id:
rs776321505
ExAC:
12:7945635 GAGA / G
gnomAD v2:
12-7945635-GAGA-G
gnomAD v4:
12-7793039-GAGA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.7793043_7793045del , CM000674.2:g.7793043_7793045del | GRCh38 |
| NC_000012.11:g.7945639_7945641del , CM000674.1:g.7945639_7945641del | GRCh37 |
| NC_000012.10:g.7836906_7836908del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000229307.9:c.245_247del MANE Select | ENSP00000229307.4:p.Lys82del | |
| ENST00000229307.8:c.245_247del | ENSP00000229307.4:p.Lys82del | |
| ENST00000526286.1:c.245_247del | ENSP00000435288.1:p.Lys82del | |
| ENST00000526434.2:n.389_391del | ||
| ENST00000541267.5:c.173_175del | ENSP00000444434.1:p.Lys58del | |
| NM_001297698.1:c.245_247del | NP_001284627.1:p.Lys82del | |
| NM_024865.3:c.245_247del | NP_079141.2:p.Lys82del | |
| XM_011520850.1:c.245_247del | XP_011519152.1:p.Lys82del | |
| XM_011520851.1:c.173_175del | XP_011519153.1:p.Lys58del | |
| XM_011520852.1:c.-128_-126del | XP_011519154.1:n.-128_-126del | |
| NM_024865.4:c.245_247del MANE Select | NP_079141.2:p.Lys82del | |
| NM_001297698.2:c.245_247del | NP_001284627.1:p.Lys82del |