Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19960990_19960992dup , CM000670.2:g.19960990_19960992dup | GRCh38 |
| NC_000008.10:g.19818501_19818503dup , CM000670.1:g.19818501_19818503dup | GRCh37 |
| NC_000008.9:g.19862781_19862783dup | NCBI36 |
| NG_008855.1:g.26920_26922dup | |
| NG_008855.2:g.64274_64276dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.1229_1231dup MANE Select | ENSP00000497642.1:p.Lys410_Ser411insLys | |
| ENST00000650478.1:c.169_171dup | ENSP00000497560.1:n.169_171dup | |
| ENST00000311322.8:c.1229_1231dup | ENSP00000309757.6:p.Lys410_Ser411insLys | |
| NM_000237.2:c.1229_1231dup | NP_000228.1:p.Lys410_Ser411insLys | |
| NM_000237.3:c.1229_1231dup MANE Select | NP_000228.1:p.Lys410_Ser411insLys |