MyVariant.info:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133354661_133354670delinsAT , CM000671.2:g.133354661_133354670delinsAT | GRCh38 |
| NC_000009.10:g.135211337_135211346delinsAT | NCBI36 |
| NG_008477.1:g.6837_6846delinsAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371974.8:c.312_321delinsAT MANE Select | ENSP00000361042.3:p.Leu105Ter | |
| ENST00000371974.7:c.312_321delinsAT | ENSP00000361042.3:p.Leu105Ter | |
| ENST00000437995.1:n.258_267delinsAT | ||
| ENST00000615505.4:c.-16_-7delinsAT | ENSP00000482067.1:n.-16_-7delinsAT | |
| NM_001280787.1:c.-16_-7delinsAT | NP_001267716.1:n.-16_-7delinsAT | |
| NM_003172.3:c.312_321delinsAT | NP_003163.1:p.Leu105Ter | |
| XM_011518942.1:c.-16_-7delinsAT | XP_011517244.1:n.-16_-7delinsAT | |
| NM_003172.4:c.312_321delinsAT MANE Select | NP_003163.1:p.Leu105Ter |