Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.30308209_30308223del , CM000685.2:g.30308209_30308223del | GRCh38 |
| NC_000023.10:g.30326326_30326340del , CM000685.1:g.30326326_30326340del | GRCh37 |
| NC_000023.9:g.30236247_30236261del | NCBI36 |
| NG_009814.1:g.6159_6173del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378970.5:c.1144_1158del MANE Select | ENSP00000368253.4:p.Lys382_Leu386del | |
| ENST00000378963.1:c.259_273del | ENSP00000368246.1:p.Lys87_Leu91del | |
| ENST00000378970.4:c.1144_1158del | ENSP00000368253.4:p.Lys382_Leu386del | |
| NM_000475.4:c.1144_1158del | NP_000466.2:p.Lys382_Leu386del | |
| NM_000475.5:c.1144_1158del MANE Select | NP_000466.2:p.Lys382_Leu386del |