Linked Data
dbSNP Id:
rs1790740241
gnomAD v3:
7-70776939-GGGCGCTGGAGAGCTACTGATGGAA-G
gnomAD v4:
7-70776939-GGGCGCTGGAGAGCTACTGATGGAA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.70776943_70776966del , CM000669.2:g.70776943_70776966del | GRCh38 |
| NC_000007.13:g.70241929_70241952del , CM000669.1:g.70241929_70241952del | GRCh37 |
| NC_000007.12:g.69879865_69879888del | NCBI36 |
| NG_034133.1:g.1183025_1183048del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342771.10:c.1933-160_1933-137del MANE Select | ENSP00000344087.4:n.1933-160_1933-137del | |
| ENST00000439256.2:c.31-160_31-137del | ENSP00000407058.2:n.31-160_31-137del | |
| ENST00000443672.2:c.268-160_268-137del | ENSP00000393548.2:n.268-160_268-137del | |
| ENST00000449547.6:c.26-160_26-137del | ||
| ENST00000464768.2:n.601-160_601-137del | ||
| ENST00000644359.1:c.514-160_514-137del | ENSP00000494561.1:n.514-160_514-137del | |
| ENST00000644506.1:c.559-160_559-137del | ENSP00000496672.1:n.559-160_559-137del | |
| ENST00000644939.1:c.1930-160_1930-137del | ENSP00000496726.1:n.1930-160_1930-137del | |
| ENST00000644949.1:c.264-160_264-137del | ||
| ENST00000646136.1:n.244-160_244-137del | ||
| ENST00000647140.1:c.798-160_798-137del | ||
| ENST00000342771.8:c.1933-160_1933-137del | ENSP00000344087.4:n.1933-160_1933-137del | |
| ENST00000406775.6:c.1861-160_1861-137del | ENSP00000385263.2:n.1861-160_1861-137del | |
| ENST00000439256.1:c.31-160_31-137del | ||
| ENST00000443672.1:c.513-160_513-137del | ||
| ENST00000464768.1:n.599-160_599-137del | ||
| ENST00000465899.1:n.270_293del | ||
| ENST00000498384.5:n.301-160_301-137del | ||
| ENST00000611706.4:c.1189-160_1189-137del | ENSP00000478134.1:n.1189-160_1189-137del | |
| ENST00000615871.4:c.1117-160_1117-137del | ENSP00000479325.1:n.1117-160_1117-137del | |
| NM_001127231.2:c.1861-160_1861-137del | NP_001120703.1:n.1861-160_1861-137del | |
| NM_015570.3:c.1933-160_1933-137del | NP_056385.1:n.1933-160_1933-137del | |
| XM_005250257.1:c.580-160_580-137del | XP_005250314.1:n.580-160_580-137del | |
| XM_011516010.1:c.1954-160_1954-137del | XP_011514312.1:n.1954-160_1954-137del | |
| XM_011516011.1:c.1951-160_1951-137del | XP_011514313.1:n.1951-160_1951-137del | |
| XM_011516012.1:c.1888-160_1888-137del | XP_011514314.1:n.1888-160_1888-137del | |
| XM_011516013.1:c.1882-160_1882-137del | XP_011514315.1:n.1882-160_1882-137del | |
| XM_011516014.1:c.1852-160_1852-137del | XP_011514316.1:n.1852-160_1852-137del | |
| XM_011516015.1:c.1690-160_1690-137del | XP_011514317.1:n.1690-160_1690-137del | |
| XM_011516016.1:c.1663-160_1663-137del | XP_011514318.1:n.1663-160_1663-137del | |
| XM_011516017.1:c.1480-160_1480-137del | XP_011514319.1:n.1480-160_1480-137del | |
| XM_011516018.1:c.1453-160_1453-137del | XP_011514320.1:n.1453-160_1453-137del | |
| XM_005250257.2:c.580-160_580-137del | XP_005250314.1:n.580-160_580-137del | |
| XM_011516010.2:c.1954-160_1954-137del | XP_011514312.1:n.1954-160_1954-137del | |
| XM_011516011.2:c.1951-160_1951-137del | XP_011514313.1:n.1951-160_1951-137del | |
| XM_011516012.2:c.1888-160_1888-137del | XP_011514314.1:n.1888-160_1888-137del | |
| XM_011516013.2:c.1882-160_1882-137del | XP_011514315.1:n.1882-160_1882-137del | |
| XM_011516014.2:c.1852-160_1852-137del | XP_011514316.1:n.1852-160_1852-137del | |
| XM_011516017.2:c.1480-160_1480-137del | XP_011514319.1:n.1480-160_1480-137del | |
| XM_011516018.2:c.1453-160_1453-137del | XP_011514320.1:n.1453-160_1453-137del | |
| XM_017011951.2:c.1954-160_1954-137del | XP_016867440.1:n.1954-160_1954-137del | |
| NM_001127231.3:c.1861-160_1861-137del | NP_001120703.1:n.1861-160_1861-137del | |
| NM_015570.4:c.1933-160_1933-137del MANE Select | NP_056385.1:n.1933-160_1933-137del |