Linked Data
COSMIC:
COSM4612781
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45766883_45766885del , CM000681.2:g.45766883_45766885del | GRCh38 |
| NC_000019.9:g.46270141_46270143del , CM000681.1:g.46270141_46270143del | GRCh37 |
| NC_000019.8:g.50961981_50961983del | NCBI36 |
| NG_012745.1:g.7361_7363del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317578.7:c.1080_1082del MANE Select | ENSP00000316842.4:p.Leu361del | |
| ENST00000317578.6:c.1080_1082del | ENSP00000316842.4:p.Leu361del | |
| ENST00000560160.1:c.587-768_587-766del | ||
| ENST00000560168.1:c.*268_*270del | ENSP00000453189.2:n.*268_*270del | |
| ENST00000622857.1:c.16-917_16-915del | ENSP00000481365.1:n.16-917_16-915del | |
| NM_175875.4:c.1080_1082del | NP_787071.2:p.Leu361del | |
| NM_175875.5:c.1080_1082del MANE Select | NP_787071.3:p.Leu361del |