Linked Data
dbSNP Id:
rs2055559618
gnomAD v3:
17-75568800-T-TGACCCCAGCCCCACCCC
gnomAD v4:
17-75568800-T-TGACCCCAGCCCCACCCC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75568801_75568817dup , CM000679.2:g.75568801_75568817dup | GRCh38 |
| NC_000017.10:g.73564882_73564898dup , CM000679.1:g.73564882_73564898dup | GRCh37 |
| NC_000017.9:g.71076477_71076493dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392550.8:c.1284_1300dup MANE Select | ENSP00000376333.4:p.Gln434ArgfsTer? | |
| ENST00000167462.9:c.1284_1300dup | ENSP00000167462.5:p.Gln434ArgfsTer? | |
| ENST00000392550.7:c.1284_1300dup | ENSP00000376333.3:p.Gln434ArgfsTer? | |
| ENST00000545227.6:n.1461_1477dup | ||
| ENST00000577200.5:c.1284_1300dup | ENSP00000464397.1:p.Gln434ArgfsTer? | |
| ENST00000577500.5:n.804_820dup | ||
| ENST00000578638.5:c.275_291dup | ||
| NM_001031803.1:c.1284_1300dup | NP_001026973.1:p.Gln434ArgfsTer? | |
| NM_004524.2:c.1284_1300dup | NP_004515.2:p.Gln434ArgfsTer? | |
| XM_006721897.2:c.1284_1300dup | XP_006721960.1:p.Gln434ArgfsTer? | |
| XM_011524801.1:c.1284_1300dup | XP_011523103.1:p.Gln434ArgfsTer? | |
| XM_011524802.1:c.1284_1300dup | XP_011523104.1:p.Gln434ArgfsTer? | |
| XM_011524803.1:c.1284_1300dup | XP_011523105.1:p.Gln434ArgfsTer? | |
| XM_011524804.1:c.1284_1300dup | XP_011523106.1:p.Gln434ArgfsTer? | |
| XM_011524805.1:c.1284_1300dup | XP_011523107.1:p.Gln434ArgfsTer? | |
| XM_011524806.1:c.1284_1300dup | XP_011523108.1:p.Gln434ArgfsTer? | |
| XM_011524807.1:c.1086_1102dup | XP_011523109.1:p.Gln368ArgfsTer? | |
| XM_017024625.1:c.1284_1300dup | XP_016880114.1:p.Gln434ArgfsTer? | |
| XM_017024626.1:c.1284_1300dup | XP_016880115.1:p.Gln434ArgfsTer? | |
| XM_017024627.1:c.1284_1300dup | XP_016880116.1:p.Gln434ArgfsTer? | |
| XM_017024628.1:c.1284_1300dup | XP_016880117.1:p.Gln434ArgfsTer? | |
| XM_017024629.1:c.1284_1300dup | XP_016880118.1:p.Gln434ArgfsTer? | |
| XM_017024630.1:c.1284_1300dup | XP_016880119.1:p.Gln434ArgfsTer? | |
| XM_017024631.1:c.1284_1300dup | XP_016880120.1:p.Gln434ArgfsTer? | |
| XR_001752508.1:n.1409_1425dup | ||
| XR_002957999.1:n.1409_1425dup | ||
| XR_002958000.1:n.1476_1492dup | ||
| XR_002958001.1:n.1519_1535dup | ||
| XR_002958002.1:n.1448_1464dup | ||
| XR_002958003.1:n.1409_1425dup | ||
| XR_002958004.1:n.1527_1543dup | ||
| XR_002958005.1:n.1545_1561dup | ||
| NM_001031803.2:c.1284_1300dup MANE Select | NP_001026973.1:p.Gln434ArgfsTer? | |
| NM_004524.3:c.1284_1300dup | NP_004515.2:p.Gln434ArgfsTer? |