Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.114044601_114044612delinsTACCTCGCCATC , CM000672.2:g.114044601_114044612delinsTACCTCGCCATC | GRCh38 |
| NC_000010.10:g.115804360_115804371delinsTACCTCGCCATC , CM000672.1:g.115804360_115804371delinsTACCTCGCCATC | GRCh37 |
| NC_000010.9:g.115794350_115794361delinsTACCTCGCCATC | NCBI36 |
| NG_012187.1:g.5555_5566delinsTACCTCGCCATC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369295.4:c.469_480delinsTACCTCGCCATC MANE Select | ENSP00000358301.2:p.Tyr157= | |
| ENST00000369295.3:c.469_480delinsTACCTCGCCATC | ENSP00000358301.2:p.Tyr157= | |
| NM_000684.2:c.469_480delinsTACCTCGCCATC | NP_000675.1:p.Tyr157= | |
| NM_000684.3:c.469_480delinsTACCTCGCCATC MANE Select | NP_000675.1:p.Tyr157= |