Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114713907_114713908delinsCA , CM000663.2:g.114713907_114713908delinsCA | GRCh38 |
| NC_000001.10:g.115256528_115256529delinsCA , CM000663.1:g.115256528_115256529delinsCA | GRCh37 |
| NC_000001.9:g.115058051_115058052delinsCA | NCBI36 |
| NG_007572.1:g.7987_7988delinsTG , LRG_92:g.7987_7988delinsTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369535.5:c.182_183delinsTG MANE Select | ENSP00000358548.4:p.Gln61Leu | |
| ENST00000369535.4:c.182_183delinsTG | ENSP00000358548.4:p.Gln61Leu | |
| NM_002524.4:c.182_183delinsTG | NP_002515.1:p.Gln61Leu | |
| NM_002524.5:c.182_183delinsTG MANE Select | NP_002515.1:p.Gln61Leu |