Linked Data
dbSNP Id:
rs750022485
ExAC:
7:65426054 CAAAAA / C
gnomAD v2:
7-65426054-CAAAAA-C
gnomAD v4:
7-65961067-CAAAAA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.65961077_65961081del , CM000669.2:g.65961077_65961081del | GRCh38 |
| NC_000007.13:g.65426064_65426068del , CM000669.1:g.65426064_65426068del | GRCh37 |
| NC_000007.12:g.65063499_65063503del | NCBI36 |
| NG_016197.1:g.26243_26247del | |
| NG_051954.1:g.92979_92983del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304895.9:c.1790-9_1790-5del MANE Select | ENSP00000302728.4:n.1790-9_1790-5del | |
| ENST00000304895.8:c.1790-9_1790-5del | ENSP00000302728.4:n.1790-9_1790-5del | |
| ENST00000421103.5:c.1352-9_1352-5del | ENSP00000391390.1:n.1352-9_1352-5del | |
| ENST00000430730.5:c.*1057-9_*1057-5del | ENSP00000411859.1:n.*1057-9_*1057-5del | |
| ENST00000447929.5:c.*1170-9_*1170-5del | ENSP00000411262.1:n.*1170-9_*1170-5del | |
| ENST00000466883.5:n.2180-9_2180-5del | ||
| NM_000181.3:c.1790-9_1790-5del | NP_000172.2:n.1790-9_1790-5del | |
| NM_001284290.1:c.1352-9_1352-5del | NP_001271219.1:n.1352-9_1352-5del | |
| NM_001293104.1:c.1220-9_1220-5del | NP_001280033.1:n.1220-9_1220-5del | |
| NM_001293105.1:c.1133-9_1133-5del | NP_001280034.1:n.1133-9_1133-5del | |
| NR_120531.1:n.1836-9_1836-5del | ||
| XM_005250297.3:c.1637-9_1637-5del | XP_005250354.1:n.1637-9_1637-5del | |
| XM_011516113.1:c.1289-9_1289-5del | XP_011514415.1:n.1289-9_1289-5del | |
| XM_011516114.1:c.1118-9_1118-5del | XP_011514416.1:n.1118-9_1118-5del | |
| XM_005250297.4:c.1637-9_1637-5del | XP_005250354.1:n.1637-9_1637-5del | |
| XM_011516114.2:c.1118-9_1118-5del | XP_011514416.1:n.1118-9_1118-5del | |
| XM_017012091.1:c.1136-9_1136-5del | XP_016867580.1:n.1136-9_1136-5del | |
| XM_017012092.1:c.1067-9_1067-5del | XP_016867581.1:n.1067-9_1067-5del | |
| XM_017012093.2:c.965-9_965-5del | XP_016867582.1:n.965-9_965-5del | |
| XR_001744658.2:n.1597-9_1597-5del | ||
| XR_001744659.2:n.1710-9_1710-5del | ||
| XR_001744660.2:n.1642-9_1642-5del | ||
| XR_001744661.2:n.1557-9_1557-5del | ||
| XR_927461.3:n.1795-9_1795-5del | ||
| NM_000181.4:c.1790-9_1790-5del MANE Select | NP_000172.2:n.1790-9_1790-5del | |
| NM_001284290.2:c.1352-9_1352-5del | NP_001271219.1:n.1352-9_1352-5del | |
| NM_001293104.2:c.1220-9_1220-5del | NP_001280033.1:n.1220-9_1220-5del | |
| NM_001293105.2:c.1133-9_1133-5del | NP_001280034.1:n.1133-9_1133-5del | |
| NR_120531.2:n.1735-9_1735-5del |