Linked Data
gnomAD v4:
16-1986026-TAGAGGGTGGTCAGCC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1986031_1986045del , CM000678.2:g.1986031_1986045del | GRCh38 |
| NC_000016.9:g.2036032_2036046del , CM000678.1:g.2036032_2036046del | GRCh37 |
| NC_000016.8:g.1976033_1976047del | NCBI36 |
| NG_016288.1:g.6883_6897del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567719.2:c.*3_*17del | ENSP00000455885.1:n.*3_*17del | |
| ENST00000248114.7:c.*3_*17del MANE Select | ENSP00000248114.6:n.*3_*17del | |
| ENST00000248114.6:c.*3_*17del | ENSP00000248114.6:n.*3_*17del | |
| ENST00000565658.1:n.778_792del | ||
| ENST00000567719.1:c.*3_*17del | ENSP00000455885.1:n.*3_*17del | |
| ENST00000569451.1:c.*94_*108del | ENSP00000456432.1:n.*94_*108del | |
| NM_005262.2:c.*3_*17del | NP_005253.3:n.*3_*17del | |
| NM_005262.3:c.*3_*17del MANE Select | NP_005253.3:n.*3_*17del |