Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154953911_154953912insA , CM000685.2:g.154953911_154953912insA | GRCh38 |
| NC_000023.10:g.154182186_154182187insA , CM000685.1:g.154182186_154182187insA | GRCh37 |
| NC_000023.9:g.153835380_153835381insA | NCBI36 |
| NG_011403.1:g.73812_73813insT | |
| NG_011403.2:g.73812_73813insT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.1883_1884insT MANE Select | ENSP00000353393.4:p.Gln628HisfsTer15 | |
| ENST00000647125.1:c.*1759_*1760insT | ENSP00000496062.1:n.*1759_*1760insT | |
| ENST00000360256.8:c.1883_1884insT | ENSP00000353393.4:p.Gln628HisfsTer15 | |
| NM_000132.3:c.1883_1884insT | NP_000123.1:p.Gln628HisfsTer15 | |
| XM_011531126.1:c.1778_1779insT | XP_011529428.1:p.Gln593HisfsTer15 | |
| NM_000132.4:c.1883_1884insT MANE Select | NP_000123.1:p.Gln628HisfsTer15 |