Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6023703_6023725delinsGGA , CM000674.2:g.6023703_6023725delinsGGA | GRCh38 |
| NC_000012.11:g.6132869_6132891delinsGGA , CM000674.1:g.6132869_6132891delinsGGA | GRCh37 |
| NC_000012.10:g.6003130_6003152delinsGGA | NCBI36 |
| NG_009072.1:g.105946_105968delinsTCC | |
| NG_009072.2:g.105946_105968delinsTCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261405.10:c.3285_3307delinsTCC MANE Select | ENSP00000261405.5:p.Asp1096ProfsTer? | |
| ENST00000261405.9:c.3285_3307delinsTCC | ENSP00000261405.5:p.Asp1096ProfsTer? | |
| ENST00000538635.5:n.421-29791_421-29769delinsTCC | ||
| NM_000552.3:c.3285_3307delinsTCC | NP_000543.2:p.Asp1096ProfsTer? | |
| NM_000552.4:c.3285_3307delinsTCC | NP_000543.2:p.Asp1096ProfsTer? | |
| NM_000552.5:c.3285_3307delinsTCC MANE Select | NP_000543.3:p.Asp1096ProfsTer? |