Linked Data
dbSNP Id:
rs1559404556
gnomAD v2:
2-242707213-GGCCGGGCA-G
gnomAD v4:
2-241767798-GGCCGGGCA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.241767801_241767808del , CM000664.2:g.241767801_241767808del | GRCh38 |
| NC_000002.11:g.242707216_242707223del , CM000664.1:g.242707216_242707223del | GRCh37 |
| NC_000002.10:g.242355889_242355896del | NCBI36 |
| NG_012012.1:g.38187_38194del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321264.9:c.1398_1405del MANE Select | ENSP00000315351.4:p.Gln469ArgfsTer? | |
| ENST00000321264.8:c.1398_1405del | ENSP00000315351.4:p.Gln469ArgfsTer? | |
| ENST00000400769.6:c.*148_*155del | ENSP00000383580.2:n.*148_*155del | |
| ENST00000403782.5:c.996_1003del | ENSP00000384723.1:p.Gln335ArgfsTer? | |
| ENST00000436747.5:c.*2634_*2641del | ENSP00000400212.1:n.*2634_*2641del | |
| ENST00000445308.1:c.794_801del | ||
| ENST00000468064.5:n.1288_1295del | ||
| ENST00000470343.5:n.879_886del | ||
| ENST00000473126.1:n.597_604del | ||
| ENST00000486953.5:n.1222_1229del | ||
| ENST00000610344.1:c.*242_*249del | ENSP00000481906.1:n.*242_*249del | |
| NM_001287249.1:c.996_1003del | NP_001274178.1:p.Gln335ArgfsTer? | |
| NM_152783.4:c.1398_1405del | NP_689996.4:p.Gln469ArgfsTer? | |
| NR_109778.1:n.1320_1327del | ||
| XM_011511734.1:c.1518_1525del | XP_011510036.1:p.Gln509ArgfsTer? | |
| XM_011511735.1:c.1476_1483del | XP_011510037.1:p.Gln495ArgfsTer? | |
| XM_011511736.1:c.1440_1447del | XP_011510038.1:p.Gln483ArgfsTer? | |
| XM_011511750.1:c.*65_*72del | XP_011510052.1:n.*65_*72del | |
| XM_011511754.1:c.957_964del | XP_011510056.1:p.Gln322ArgfsTer? | |
| XM_011511755.1:c.948_955del | XP_011510057.1:p.Gln319ArgfsTer? | |
| XM_011511756.1:c.945_952del | XP_011510058.1:p.Gln318ArgfsTer? | |
| XR_923004.1:n.2030_2037del | ||
| XR_923007.1:n.1740_1747del | ||
| XR_923011.1:n.1841_1848del | ||
| NM_001352824.1:c.837_844del | NP_001339753.1:p.Gln282ArgfsTer? | |
| XM_011511734.2:c.1518_1525del | XP_011510036.1:p.Gln509ArgfsTer? | |
| XM_011511735.2:c.1476_1483del | XP_011510037.1:p.Gln495ArgfsTer? | |
| XM_011511736.2:c.1440_1447del | XP_011510038.1:p.Gln483ArgfsTer? | |
| XM_011511750.3:c.*65_*72del | XP_011510052.1:n.*65_*72del | |
| XM_011511756.2:c.945_952del | XP_011510058.1:p.Gln318ArgfsTer? | |
| XM_024453102.1:c.1290_1297del | XP_024308870.1:p.Gln433ArgfsTer? | |
| XR_001738918.2:n.1772_1779del | ||
| XR_001738919.2:n.1706_1713del | ||
| XR_923004.3:n.2029_2036del | ||
| XR_923007.3:n.1739_1746del | ||
| XR_923011.3:n.1840_1847del | ||
| NM_152783.5:c.1398_1405del MANE Select | NP_689996.4:p.Gln469ArgfsTer? | |
| NM_001287249.2:c.996_1003del | NP_001274178.1:p.Gln335ArgfsTer? | |
| NM_001352824.2:c.837_844del | NP_001339753.1:p.Gln282ArgfsTer? | |
| NR_109778.2:n.1269_1276del |