Linked Data
ClinVar Variation Id:
707480
ClinVar RCV Id:
RCV000878490
dbSNP Id:
rs750022485
ExAC:
7:65426054 CAA / C
gnomAD v2:
7-65426054-CAA-C
gnomAD v3:
7-65961067-CAA-C
gnomAD v4:
7-65961067-CAA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.65961080_65961081del , CM000669.2:g.65961080_65961081del | GRCh38 |
| NC_000007.13:g.65426067_65426068del , CM000669.1:g.65426067_65426068del | GRCh37 |
| NC_000007.12:g.65063502_65063503del | NCBI36 |
| NG_016197.1:g.26246_26247del | |
| NG_051954.1:g.92982_92983del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304895.9:c.1790-6_1790-5del MANE Select | ENSP00000302728.4:n.1790-6_1790-5del | |
| ENST00000304895.8:c.1790-6_1790-5del | ENSP00000302728.4:n.1790-6_1790-5del | |
| ENST00000421103.5:c.1352-6_1352-5del | ENSP00000391390.1:n.1352-6_1352-5del | |
| ENST00000430730.5:c.*1057-6_*1057-5del | ENSP00000411859.1:n.*1057-6_*1057-5del | |
| ENST00000447929.5:c.*1170-6_*1170-5del | ENSP00000411262.1:n.*1170-6_*1170-5del | |
| ENST00000466883.5:n.2180-6_2180-5del | ||
| NM_000181.3:c.1790-6_1790-5del | NP_000172.2:n.1790-6_1790-5del | |
| NM_001284290.1:c.1352-6_1352-5del | NP_001271219.1:n.1352-6_1352-5del | |
| NM_001293104.1:c.1220-6_1220-5del | NP_001280033.1:n.1220-6_1220-5del | |
| NM_001293105.1:c.1133-6_1133-5del | NP_001280034.1:n.1133-6_1133-5del | |
| NR_120531.1:n.1836-6_1836-5del | ||
| XM_005250297.3:c.1637-6_1637-5del | XP_005250354.1:n.1637-6_1637-5del | |
| XM_011516113.1:c.1289-6_1289-5del | XP_011514415.1:n.1289-6_1289-5del | |
| XM_011516114.1:c.1118-6_1118-5del | XP_011514416.1:n.1118-6_1118-5del | |
| XM_005250297.4:c.1637-6_1637-5del | XP_005250354.1:n.1637-6_1637-5del | |
| XM_011516114.2:c.1118-6_1118-5del | XP_011514416.1:n.1118-6_1118-5del | |
| XM_017012091.1:c.1136-6_1136-5del | XP_016867580.1:n.1136-6_1136-5del | |
| XM_017012092.1:c.1067-6_1067-5del | XP_016867581.1:n.1067-6_1067-5del | |
| XM_017012093.2:c.965-6_965-5del | XP_016867582.1:n.965-6_965-5del | |
| XR_001744658.2:n.1597-6_1597-5del | ||
| XR_001744659.2:n.1710-6_1710-5del | ||
| XR_001744660.2:n.1642-6_1642-5del | ||
| XR_001744661.2:n.1557-6_1557-5del | ||
| XR_927461.3:n.1795-6_1795-5del | ||
| NM_000181.4:c.1790-6_1790-5del MANE Select | NP_000172.2:n.1790-6_1790-5del | |
| NM_001284290.2:c.1352-6_1352-5del | NP_001271219.1:n.1352-6_1352-5del | |
| NM_001293104.2:c.1220-6_1220-5del | NP_001280033.1:n.1220-6_1220-5del | |
| NM_001293105.2:c.1133-6_1133-5del | NP_001280034.1:n.1133-6_1133-5del | |
| NR_120531.2:n.1735-6_1735-5del |