Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24209095_24209096del , CM000668.2:g.24209095_24209096del | GRCh38 |
| NC_000006.11:g.24209323_24209324del , CM000668.1:g.24209323_24209324del | GRCh37 |
| NC_000006.10:g.24317302_24317303del | NCBI36 |
| NG_012829.1:g.153959_153960del | |
| NG_012829.2:g.179199_179200del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378454.8:c.923-3992_923-3991del MANE Select | ENSP00000367715.3:n.923-3992_923-3991del | |
| ENST00000378454.7:c.923-3992_923-3991del | ENSP00000367715.3:n.923-3992_923-3991del | |
| NM_001195610.1:c.923-3992_923-3991del | NP_001182539.1:n.923-3992_923-3991del | |
| NM_016356.4:c.923-3992_923-3991del | NP_057440.2:n.923-3992_923-3991del | |
| NM_016356.5:c.923-3992_923-3991del MANE Select | NP_057440.2:n.923-3992_923-3991del | |
| NM_001195610.2:c.923-3992_923-3991del | NP_001182539.1:n.923-3992_923-3991del |