Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154956995_154956998delinsTGAG , CM000685.2:g.154956995_154956998delinsTGAG | GRCh38 |
| NC_000023.10:g.154185270_154185273delinsTGAG , CM000685.1:g.154185270_154185273delinsTGAG | GRCh37 |
| NC_000023.9:g.153838464_153838467delinsTGAG | NCBI36 |
| NG_011403.1:g.70726_70729delinsCTCA | |
| NG_011403.2:g.70726_70729delinsCTCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.1711_1714delinsCTCA MANE Select | ENSP00000353393.4:p.Leu571= | |
| ENST00000647125.1:c.*1587_*1590delinsCTCA | ENSP00000496062.1:n.*1587_*1590delinsCTCA | |
| ENST00000360256.8:c.1711_1714delinsCTCA | ENSP00000353393.4:p.Leu571= | |
| NM_000132.3:c.1711_1714delinsCTCA | NP_000123.1:p.Leu571= | |
| XM_011531126.1:c.1606_1609delinsCTCA | XP_011529428.1:p.Leu536= | |
| NM_000132.4:c.1711_1714delinsCTCA MANE Select | NP_000123.1:p.Leu571= |