Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114713908_114713909delinsAA , CM000663.2:g.114713908_114713909delinsAA | GRCh38 |
| NC_000001.10:g.115256529_115256530delinsAA , CM000663.1:g.115256529_115256530delinsAA | GRCh37 |
| NC_000001.9:g.115058052_115058053delinsAA | NCBI36 |
| NG_007572.1:g.7986_7987delinsTT , LRG_92:g.7986_7987delinsTT |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002524.5:c.181_182delinsTT MANE Select | NP_002515.1:p.Gln61Leu |
| ENST00000369535.5:c.181_182delinsTT MANE Select | ENSP00000358548.4:p.Gln61Leu |
| NM_002524.4:c.181_182delinsTT | NP_002515.1:p.Gln61Leu |
| ENST00000369535.4:c.181_182delinsTT | ENSP00000358548.4:p.Gln61Leu |