Linked Data
dbSNP Id:
rs759334819
gnomAD v3:
9-137776581-T-TTTCTAAATAATTTC
gnomAD v4:
9-137776581-T-TTTCTAAATAATTTC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137776582_137776583insTCTAAATAATTTCT , CM000671.2:g.137776582_137776583insTCTAAATAATTTCT | GRCh38 |
| NC_000009.11:g.140671034_140671035insTCTAAATAATTTCT , CM000671.1:g.140671034_140671035insTCTAAATAATTTCT | GRCh37 |
| NC_000009.10:g.139790855_139790856insTCTAAATAATTTCT | NCBI36 |
| NG_011776.1:g.162591_162592insTCTAAATAATTTCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000460843.6:c.1792-36_1792-35insTCTAAATAATTTCT MANE Select | ENSP00000417980.1:n.1792-36_1792-35insTCTAAATAATTTCT | |
| ENST00000636027.1:c.1678-36_1678-35insTCTAAATAATTTCT | ENSP00000489961.1:n.1678-36_1678-35insTCTAAATAATTTCT | |
| ENST00000637161.1:c.1699-36_1699-35insTCTAAATAATTTCT | ENSP00000490328.1:n.1699-36_1699-35insTCTAAATAATTTCT | |
| ENST00000637261.1:c.1832-36_1832-35insTCTAAATAATTTCT | ENSP00000490815.1:n.1832-36_1832-35insTCTAAATAATTTCT | |
| ENST00000638071.1:c.1419-36_1419-35insTCTAAATAATTTCT | ||
| ENST00000640639.1:c.961-36_961-35insTCTAAATAATTTCT | ENSP00000491823.1:n.961-36_961-35insTCTAAATAATTTCT | |
| ENST00000371394.6:c.*1527-36_*1527-35insTCTAAATAATTTCT | ENSP00000485945.1:n.*1527-36_*1527-35insTCTAAATAATTTCT | |
| ENST00000460843.5:c.1792-36_1792-35insTCTAAATAATTTCT | ENSP00000417980.1:n.1792-36_1792-35insTCTAAATAATTTCT | |
| ENST00000462484.5:c.1792-36_1792-35insTCTAAATAATTTCT | ENSP00000417328.1:n.1792-36_1792-35insTCTAAATAATTTCT | |
| ENST00000462942.3:c.649-36_649-35insTCTAAATAATTTCT | ENSP00000436107.1:n.649-36_649-35insTCTAAATAATTTCT | |
| ENST00000465566.2:c.340-36_340-35insTCTAAATAATTTCT | ENSP00000486261.1:n.340-36_340-35insTCTAAATAATTTCT | |
| ENST00000626603.1:n.1867_1868insGAAATTATTTAGAA | ||
| NM_001145527.1:c.1792-36_1792-35insTCTAAATAATTTCT | NP_001138999.1:n.1792-36_1792-35insTCTAAATAATTTCT | |
| NM_024757.4:c.1792-36_1792-35insTCTAAATAATTTCT | NP_079033.4:n.1792-36_1792-35insTCTAAATAATTTCT | |
| XM_005266105.3:c.1783-36_1783-35insTCTAAATAATTTCT | XP_005266162.1:n.1783-36_1783-35insTCTAAATAATTTCT | |
| XM_005266110.1:c.1699-36_1699-35insTCTAAATAATTTCT | XP_005266167.1:n.1699-36_1699-35insTCTAAATAATTTCT | |
| XM_006717288.2:c.1774-36_1774-35insTCTAAATAATTTCT | XP_006717351.1:n.1774-36_1774-35insTCTAAATAATTTCT | |
| XM_011519021.1:c.1801-36_1801-35insTCTAAATAATTTCT | XP_011517323.1:n.1801-36_1801-35insTCTAAATAATTTCT | |
| XM_011519022.1:c.1798-36_1798-35insTCTAAATAATTTCT | XP_011517324.1:n.1798-36_1798-35insTCTAAATAATTTCT | |
| XM_011519023.1:c.1780-36_1780-35insTCTAAATAATTTCT | XP_011517325.1:n.1780-36_1780-35insTCTAAATAATTTCT | |
| XM_011519024.1:c.1723-36_1723-35insTCTAAATAATTTCT | XP_011517326.1:n.1723-36_1723-35insTCTAAATAATTTCT | |
| XM_011519025.1:c.1699-36_1699-35insTCTAAATAATTTCT | XP_011517327.1:n.1699-36_1699-35insTCTAAATAATTTCT | |
| XM_011519026.1:c.1657-36_1657-35insTCTAAATAATTTCT | XP_011517328.1:n.1657-36_1657-35insTCTAAATAATTTCT | |
| XM_011519027.1:c.1801-36_1801-35insTCTAAATAATTTCT | XP_011517329.1:n.1801-36_1801-35insTCTAAATAATTTCT | |
| XM_011519028.1:c.1801-36_1801-35insTCTAAATAATTTCT | XP_011517330.1:n.1801-36_1801-35insTCTAAATAATTTCT | |
| XM_011519029.1:c.223-36_223-35insTCTAAATAATTTCT | XP_011517331.1:n.223-36_223-35insTCTAAATAATTTCT | |
| XM_011519033.1:c.1636-36_1636-35insTCTAAATAATTTCT | XP_011517335.1:n.1636-36_1636-35insTCTAAATAATTTCT | |
| NM_001354259.1:c.1699-36_1699-35insTCTAAATAATTTCT | NP_001341188.1:n.1699-36_1699-35insTCTAAATAATTTCT | |
| NM_001354263.1:c.1771-36_1771-35insTCTAAATAATTTCT | NP_001341192.1:n.1771-36_1771-35insTCTAAATAATTTCT | |
| XM_005266105.5:c.1783-36_1783-35insTCTAAATAATTTCT | XP_005266162.1:n.1783-36_1783-35insTCTAAATAATTTCT | |
| XM_011519021.3:c.1801-36_1801-35insTCTAAATAATTTCT | XP_011517323.1:n.1801-36_1801-35insTCTAAATAATTTCT | |
| XM_011519022.3:c.1798-36_1798-35insTCTAAATAATTTCT | XP_011517324.1:n.1798-36_1798-35insTCTAAATAATTTCT | |
| XM_011519023.3:c.1780-36_1780-35insTCTAAATAATTTCT | XP_011517325.1:n.1780-36_1780-35insTCTAAATAATTTCT | |
| XM_011519029.3:c.223-36_223-35insTCTAAATAATTTCT | XP_011517331.1:n.223-36_223-35insTCTAAATAATTTCT | |
| XM_017015134.1:c.1777-36_1777-35insTCTAAATAATTTCT | XP_016870623.1:n.1777-36_1777-35insTCTAAATAATTTCT | |
| XM_017015136.2:c.1693-36_1693-35insTCTAAATAATTTCT | XP_016870625.1:n.1693-36_1693-35insTCTAAATAATTTCT | |
| XM_017015137.1:c.1678-36_1678-35insTCTAAATAATTTCT | XP_016870626.1:n.1678-36_1678-35insTCTAAATAATTTCT | |
| XM_017015138.1:c.1678-36_1678-35insTCTAAATAATTTCT | XP_016870627.1:n.1678-36_1678-35insTCTAAATAATTTCT | |
| XM_024447674.1:c.1621-36_1621-35insTCTAAATAATTTCT | XP_024303442.1:n.1621-36_1621-35insTCTAAATAATTTCT | |
| XM_024447675.1:c.1555-36_1555-35insTCTAAATAATTTCT | XP_024303443.1:n.1555-36_1555-35insTCTAAATAATTTCT | |
| XM_024447676.1:c.916-36_916-35insTCTAAATAATTTCT | XP_024303444.1:n.916-36_916-35insTCTAAATAATTTCT | |
| XM_024447677.1:c.916-36_916-35insTCTAAATAATTTCT | XP_024303445.1:n.916-36_916-35insTCTAAATAATTTCT | |
| XM_024447678.1:c.1699-36_1699-35insTCTAAATAATTTCT | XP_024303446.1:n.1699-36_1699-35insTCTAAATAATTTCT | |
| XM_024447679.1:c.1699-36_1699-35insTCTAAATAATTTCT | XP_024303447.1:n.1699-36_1699-35insTCTAAATAATTTCT | |
| XM_024447680.1:c.1534-36_1534-35insTCTAAATAATTTCT | XP_024303448.1:n.1534-36_1534-35insTCTAAATAATTTCT | |
| NM_024757.5:c.1792-36_1792-35insTCTAAATAATTTCT MANE Select | NP_079033.4:n.1792-36_1792-35insTCTAAATAATTTCT | |
| NM_001145527.2:c.1792-36_1792-35insTCTAAATAATTTCT | NP_001138999.1:n.1792-36_1792-35insTCTAAATAATTTCT | |
| NM_001354259.2:c.1699-36_1699-35insTCTAAATAATTTCT | NP_001341188.1:n.1699-36_1699-35insTCTAAATAATTTCT | |
| NM_001354263.2:c.1771-36_1771-35insTCTAAATAATTTCT | NP_001341192.1:n.1771-36_1771-35insTCTAAATAATTTCT |