ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24290975_24290976delinsCA , CM000668.2:g.24290975_24290976delinsCA | GRCh38 |
| NC_000006.11:g.24291203_24291204delinsCA , CM000668.1:g.24291203_24291204delinsCA | GRCh37 |
| NC_000006.10:g.24399182_24399183delinsCA | NCBI36 |
| NG_012829.1:g.72077_72078delinsTG | |
| NG_012829.2:g.97317_97318delinsTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378454.8:c.660_661delinsTG MANE Select | ENSP00000367715.3:p.Ser221Gly | |
| ENST00000378454.7:c.660_661delinsTG | ENSP00000367715.3:p.Ser221Gly | |
| NM_001195610.1:c.660_661delinsTG | NP_001182539.1:p.Ser221Gly | |
| NM_016356.4:c.660_661delinsTG | NP_057440.2:p.Ser221Gly | |
| NM_016356.5:c.660_661delinsTG MANE Select | NP_057440.2:p.Ser221Gly | |
| NM_001195610.2:c.660_661delinsTG | NP_001182539.1:p.Ser221Gly |