Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44288411_44288413del , CM000683.2:g.44288411_44288413del | GRCh38 |
| NC_000021.8:g.45708294_45708296del , CM000683.1:g.45708294_45708296del | GRCh37 |
| NC_000021.7:g.44532722_44532724del | NCBI36 |
| NG_009556.1:g.7532_7534del , LRG_18:g.7532_7534del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291582.6:c.605_607del MANE Select | ENSP00000291582.5:p.Ala202_Arg203delinsGly | |
| ENST00000291582.5:c.605_607del | ENSP00000291582.5:p.Ala202_Arg203delinsGly | |
| ENST00000527919.5:n.1149_1151del | ||
| ENST00000530812.5:n.1157_1159del | ||
| NM_000383.3:c.605_607del | NP_000374.1:p.Ala202_Arg203delinsGly | |
| XM_011529551.1:c.605_607del | XP_011527853.1:p.Ala202_Arg203delinsGly | |
| NM_000383.4:c.605_607del MANE Select | NP_000374.1:p.Ala202_Arg203delinsGly |