Linked Data
gnomAD v4:
19-43551756-GAGACAGACAGAGAGAGAGAGAGAC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.43551768_43551791del , CM000681.2:g.43551768_43551791del | GRCh38 |
| NC_000019.9:g.44055920_44055943del , CM000681.1:g.44055920_44055943del | GRCh37 |
| NC_000019.8:g.48747760_48747783del | NCBI36 |
| NG_033799.1:g.28799_28822del , LRG_784:g.28799_28822del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262887.10:c.1083-93_1083-70del MANE Select | ENSP00000262887.5:n.1083-93_1083-70del | |
| ENST00000262887.9:c.1083-93_1083-70del | ENSP00000262887.4:n.1083-93_1083-70del | |
| ENST00000543982.5:c.990-93_990-70del | ENSP00000443671.1:n.990-93_990-70del | |
| ENST00000597811.5:c.693-93_693-70del | ||
| NM_006297.2:c.1083-93_1083-70del , LRG_784t1:c.1083-93_1083-70del | NP_006288.2:n.1083-93_1083-70del | |
| NM_006297.3:c.1083-93_1083-70del MANE Select | NP_006288.2:n.1083-93_1083-70del |