Linked Data
dbSNP Id:
rs1185017666
gnomAD v2:
9-140652226-TAGA-T
gnomAD v3:
9-137757774-TAGA-T
gnomAD v4:
9-137757774-TAGA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137757777_137757779del , CM000671.2:g.137757777_137757779del | GRCh38 |
| NC_000009.11:g.140652229_140652231del , CM000671.1:g.140652229_140652231del | GRCh37 |
| NC_000009.10:g.139772050_139772052del | NCBI36 |
| NG_011776.1:g.143786_143788del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000460843.6:c.1370-103_1370-101del MANE Select | ENSP00000417980.1:n.1370-103_1370-101del | |
| ENST00000629335.2:c.1370-103_1370-101del | ENSP00000490056.1:n.1370-103_1370-101del | |
| ENST00000636027.1:c.1256-103_1256-101del | ENSP00000489961.1:n.1256-103_1256-101del | |
| ENST00000637161.1:c.1277-103_1277-101del | ENSP00000490328.1:n.1277-103_1277-101del | |
| ENST00000637261.1:c.1410-103_1410-101del | ENSP00000490815.1:n.1410-103_1410-101del | |
| ENST00000637977.1:c.1315-103_1315-101del | ||
| ENST00000638071.1:c.997-103_997-101del | ||
| ENST00000640639.1:c.539-103_539-101del | ENSP00000491823.1:n.539-103_539-101del | |
| ENST00000371394.6:c.*1105-103_*1105-101del | ENSP00000485945.1:n.*1105-103_*1105-101del | |
| ENST00000460843.5:c.1370-103_1370-101del | ENSP00000417980.1:n.1370-103_1370-101del | |
| ENST00000462484.5:c.1370-103_1370-101del | ENSP00000417328.1:n.1370-103_1370-101del | |
| ENST00000462942.3:c.227-103_227-101del | ENSP00000436107.1:n.227-103_227-101del | |
| ENST00000465566.2:c.62-103_62-101del | ENSP00000486261.1:n.62-103_62-101del | |
| ENST00000626066.2:c.1273-103_1273-101del | ||
| ENST00000629808.2:c.463-103_463-101del | ||
| NM_001145527.1:c.1370-103_1370-101del | NP_001138999.1:n.1370-103_1370-101del | |
| NM_024757.4:c.1370-103_1370-101del | NP_079033.4:n.1370-103_1370-101del | |
| XM_005266105.3:c.1361-103_1361-101del | XP_005266162.1:n.1361-103_1361-101del | |
| XM_005266110.1:c.1277-103_1277-101del | XP_005266167.1:n.1277-103_1277-101del | |
| XM_006717288.2:c.1352-103_1352-101del | XP_006717351.1:n.1352-103_1352-101del | |
| XM_011519021.1:c.1379-103_1379-101del | XP_011517323.1:n.1379-103_1379-101del | |
| XM_011519022.1:c.1376-103_1376-101del | XP_011517324.1:n.1376-103_1376-101del | |
| XM_011519023.1:c.1358-103_1358-101del | XP_011517325.1:n.1358-103_1358-101del | |
| XM_011519024.1:c.1301-103_1301-101del | XP_011517326.1:n.1301-103_1301-101del | |
| XM_011519025.1:c.1277-103_1277-101del | XP_011517327.1:n.1277-103_1277-101del | |
| XM_011519026.1:c.1379-103_1379-101del | XP_011517328.1:n.1379-103_1379-101del | |
| XM_011519027.1:c.1379-103_1379-101del | XP_011517329.1:n.1379-103_1379-101del | |
| XM_011519028.1:c.1379-103_1379-101del | XP_011517330.1:n.1379-103_1379-101del | |
| XM_011519033.1:c.1358-103_1358-101del | XP_011517335.1:n.1358-103_1358-101del | |
| NM_001354259.1:c.1277-103_1277-101del | NP_001341188.1:n.1277-103_1277-101del | |
| NM_001354263.1:c.1349-103_1349-101del | NP_001341192.1:n.1349-103_1349-101del | |
| NM_001354611.1:c.1370-103_1370-101del | NP_001341540.1:n.1370-103_1370-101del | |
| NM_001354612.1:c.1277-103_1277-101del | NP_001341541.1:n.1277-103_1277-101del | |
| XM_005266105.5:c.1361-103_1361-101del | XP_005266162.1:n.1361-103_1361-101del | |
| XM_011519021.3:c.1379-103_1379-101del | XP_011517323.1:n.1379-103_1379-101del | |
| XM_011519022.3:c.1376-103_1376-101del | XP_011517324.1:n.1376-103_1376-101del | |
| XM_011519023.3:c.1358-103_1358-101del | XP_011517325.1:n.1358-103_1358-101del | |
| XM_017015134.1:c.1355-103_1355-101del | XP_016870623.1:n.1355-103_1355-101del | |
| XM_017015136.2:c.1271-103_1271-101del | XP_016870625.1:n.1271-103_1271-101del | |
| XM_017015137.1:c.1256-103_1256-101del | XP_016870626.1:n.1256-103_1256-101del | |
| XM_017015138.1:c.1256-103_1256-101del | XP_016870627.1:n.1256-103_1256-101del | |
| XM_024447674.1:c.1199-103_1199-101del | XP_024303442.1:n.1199-103_1199-101del | |
| XM_024447675.1:c.1277-103_1277-101del | XP_024303443.1:n.1277-103_1277-101del | |
| XM_024447676.1:c.494-103_494-101del | XP_024303444.1:n.494-103_494-101del | |
| XM_024447677.1:c.494-103_494-101del | XP_024303445.1:n.494-103_494-101del | |
| XM_024447678.1:c.1277-103_1277-101del | XP_024303446.1:n.1277-103_1277-101del | |
| XM_024447679.1:c.1277-103_1277-101del | XP_024303447.1:n.1277-103_1277-101del | |
| XM_024447680.1:c.1256-103_1256-101del | XP_024303448.1:n.1256-103_1256-101del | |
| NM_024757.5:c.1370-103_1370-101del MANE Select | NP_079033.4:n.1370-103_1370-101del | |
| NM_001145527.2:c.1370-103_1370-101del | NP_001138999.1:n.1370-103_1370-101del | |
| NM_001354259.2:c.1277-103_1277-101del | NP_001341188.1:n.1277-103_1277-101del | |
| NM_001354263.2:c.1349-103_1349-101del | NP_001341192.1:n.1349-103_1349-101del | |
| NM_001354611.2:c.1370-103_1370-101del | NP_001341540.1:n.1370-103_1370-101del | |
| NM_001354612.2:c.1277-103_1277-101del | NP_001341541.1:n.1277-103_1277-101del |