MyVariant.info:
GRCh38
chr16:g.1362637_1362638del
GRCh38
chr16:g.1362636_1362637del
GRCh37
chr16:g.1412637_1412638del
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002549 (AFR)
Genomes Max Group AF
0.00004738 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1362639_1362640del , CM000678.2:g.1362639_1362640del | GRCh38 |
| NC_000016.9:g.1412640_1412641del , CM000678.1:g.1412640_1412641del | GRCh37 |
| NC_000016.8:g.1352641_1352642del | NCBI36 |
| NG_016985.1:g.15741_15742del | |
| NG_033129.1:g.57068_57069del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527168.6:n.737_738del | ||
| ENST00000529110.2:c.722_723del | ENSP00000435349.2:p.Phe241Ter | |
| ENST00000529957.6:n.696_697del | ||
| ENST00000683366.1:c.*370_*371del | ENSP00000507283.1:n.*370_*371del | |
| ENST00000683887.1:c.686_687del | ENSP00000506886.1:p.Phe229Ter | |
| ENST00000684100.1:n.632_633del | ||
| ENST00000684126.1:n.772_773del | ||
| ENST00000684688.1:n.1263_1264del | ||
| ENST00000204679.9:c.638_639del MANE Select | ENSP00000204679.4:p.Phe213Ter | |
| ENST00000204679.8:c.638_639del | ENSP00000204679.4:p.Phe213Ter | |
| ENST00000527076.1:n.1861_1862del | ||
| ENST00000527168.5:n.805_806del | ||
| ENST00000529957.5:n.737_738del | ||
| NM_032520.4:c.638_639del | NP_115909.1:p.Phe213Ter | |
| XM_017023782.1:c.686_687del | XP_016879271.1:p.Phe229Ter | |
| XM_017023783.1:c.278_279del | XP_016879272.1:p.Phe93Ter | |
| NM_032520.5:c.638_639del MANE Select | NP_115909.1:p.Phe213Ter |