Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42721871_42721874delinsAGACCA , CM000668.2:g.42721871_42721874delinsAGACCA | GRCh38 |
| NC_000006.11:g.42689609_42689612delinsAGACCA , CM000668.1:g.42689609_42689612delinsAGACCA | GRCh37 |
| NC_000006.10:g.42797587_42797590delinsAGACCA | NCBI36 |
| NG_009176.1:g.5747_5750delinsTGGTCT | |
| NG_009176.2:g.5747_5750delinsTGGTCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230381.7:c.461_464delinsTGGTCT MANE Select | ENSP00000230381.5:p.Lys154MetfsTer? | |
| ENST00000230381.6:c.461_464delinsTGGTCT | ENSP00000230381.5:p.Lys154MetfsTer? | |
| NM_000322.4:c.461_464delinsTGGTCT | NP_000313.2:p.Lys154MetfsTer? | |
| XR_427834.2:n.1116_1119delinsTGGTCT | ||
| XR_926295.1:n.1116_1119delinsTGGTCT | ||
| XR_427834.4:n.1166_1169delinsTGGTCT | ||
| XR_926295.3:n.1166_1169delinsTGGTCT | ||
| NM_000322.5:c.461_464delinsTGGTCT MANE Select | NP_000313.2:p.Lys154MetfsTer? |