Linked Data
gnomAD v2:
17-41234566-C-CTCCTTCTG
MyVariant Identifiers:
chr17:g.41234566_41234567insTCCTTCTG (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43082549_43082550insTCCTTCTG , CM000679.2:g.43082549_43082550insTCCTTCTG | GRCh38 |
| NC_000017.10:g.41234566_41234567insTCCTTCTG , CM000679.1:g.41234566_41234567insTCCTTCTG | GRCh37 |
| NC_000017.9:g.38488092_38488093insTCCTTCTG | NCBI36 |
| NG_005905.2:g.135434_135435insCAGAAGGA , LRG_292:g.135434_135435insCAGAAGGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.4211_4212insCAGAAGGA | ENSP00000417241.2:p.Ile1405ArgfsTer4 | |
| ENST00000470026.6:c.4211_4212insCAGAAGGA | ENSP00000419274.2:p.Ile1405ArgfsTer4 | |
| ENST00000473961.6:c.4085_4086insCAGAAGGA | ENSP00000420201.2:p.Ile1363ArgfsTer4 | |
| ENST00000476777.6:c.4205_4206insCAGAAGGA | ENSP00000417554.2:p.Ile1403ArgfsTer4 | |
| ENST00000477152.6:c.4133_4134insCAGAAGGA | ENSP00000419988.2:p.Ile1379ArgfsTer4 | |
| ENST00000478531.6:c.899_900insCAGAAGGA | ENSP00000420412.2:p.Ile301ArgfsTer4 | |
| ENST00000489037.2:c.4133_4134insCAGAAGGA | ENSP00000420781.2:p.Ile1379ArgfsTer4 | |
| ENST00000493919.6:c.761_762insCAGAAGGA | ENSP00000418819.2:p.Ile255ArgfsTer4 | |
| ENST00000494123.6:c.4211_4212insCAGAAGGA | ENSP00000419103.2:p.Ile1405ArgfsTer4 | |
| ENST00000497488.2:c.3323_3324insCAGAAGGA | ENSP00000418986.2:p.Ile1109ArgfsTer4 | |
| ENST00000618469.2:c.4211_4212insCAGAAGGA | ENSP00000478114.2:p.Ile1405ArgfsTer4 | |
| ENST00000634433.2:c.4088_4089insCAGAAGGA | ENSP00000489431.2:p.Ile1364ArgfsTer4 | |
| ENST00000644379.2:c.4211_4212insCAGAAGGA | ENSP00000496570.2:p.Ile1405ArgfsTer4 | |
| ENST00000644555.2:c.761_762insCAGAAGGA | ENSP00000494614.2:p.Ile255ArgfsTer4 | |
| ENST00000652672.2:c.4070_4071insCAGAAGGA | ENSP00000498906.2:p.Ile1358ArgfsTer4 | |
| ENST00000484087.6:c.776_777insCAGAAGGA | ENSP00000419481.2:p.Ile260ArgfsTer4 | |
| ENST00000700182.1:c.821_822insCAGAAGGA | ENSP00000514849.1:p.Ile275ArgfsTer4 | |
| ENST00000357654.9:c.4211_4212insCAGAAGGA MANE Select | ENSP00000350283.3:p.Ile1405ArgfsTer4 | |
| ENST00000471181.7:c.4211_4212insCAGAAGGA | ENSP00000418960.2:p.Ile1405ArgfsTer4 | |
| ENST00000644379.1:c.532_533insCAGAAGGA | ||
| ENST00000352993.7:c.785_786insCAGAAGGA | ENSP00000312236.5:p.Ile263ArgfsTer4 | |
| ENST00000357654.7:c.4211_4212insCAGAAGGA | ENSP00000350283.3:p.Ile1405ArgfsTer4 | |
| ENST00000461221.5:c.*3994_*3995insCAGAAGGA | ENSP00000418548.1:n.*3994_*3995insCAGAAGGA | |
| ENST00000461574.1:c.505_506insCAGAAGGA | ||
| ENST00000468300.5:c.902_903insCAGAAGGA | ENSP00000417148.1:p.Ile302ArgfsTer4 | |
| ENST00000471181.6:c.4211_4212insCAGAAGGA | ENSP00000418960.2:p.Ile1405ArgfsTer4 | |
| ENST00000478531.5:c.899_900insCAGAAGGA | ENSP00000420412.1:p.Ile301ArgfsTer4 | |
| ENST00000484087.5:c.524_525insCAGAAGGA | ENSP00000419481.1:p.Ile176ArgfsTer4 | |
| ENST00000487825.5:c.527_528insCAGAAGGA | ENSP00000418212.1:p.Ile177ArgfsTer4 | |
| ENST00000491747.6:c.902_903insCAGAAGGA | ENSP00000420705.2:p.Ile302ArgfsTer4 | |
| ENST00000493795.5:c.4070_4071insCAGAAGGA | ENSP00000418775.1:p.Ile1358ArgfsTer4 | |
| ENST00000493919.5:c.761_762insCAGAAGGA | ENSP00000418819.1:p.Ile255ArgfsTer4 | |
| ENST00000586385.5:c.5-18599_5-18598insCAGAAGGA | ENSP00000465818.1:n.5-18599_5-18598insCAGAAGGA | |
| ENST00000591534.5:c.-43-8029_-43-8028insCAGAAGGA | ENSP00000467329.1:n.-43-8029_-43-8028insCAGAAGGA | |
| ENST00000591849.5:c.-98-32360_-98-32359insCAGAAGGA | ENSP00000465347.1:n.-98-32360_-98-32359insCAGAAGGA | |
| ENST00000621897.1:n.105_106insCAGAAGGA | ||
| NM_007294.3:c.4211_4212insCAGAAGGA , LRG_292t1:c.4211_4212insCAGAAGGA | NP_009225.1:p.Ile1405ArgfsTer4 | |
| NM_007297.3:c.4070_4071insCAGAAGGA | NP_009228.2:p.Ile1358ArgfsTer4 | |
| NM_007298.3:c.902_903insCAGAAGGA | NP_009229.2:p.Ile302ArgfsTer4 | |
| NM_007299.3:c.902_903insCAGAAGGA | NP_009230.2:p.Ile302ArgfsTer4 | |
| NM_007300.3:c.4211_4212insCAGAAGGA | NP_009231.2:p.Ile1405ArgfsTer4 | |
| NR_027676.1:n.4347_4348insCAGAAGGA | ||
| NM_007294.4:c.4211_4212insCAGAAGGA MANE Select | NP_009225.1:p.Ile1405ArgfsTer4 | |
| NM_007297.4:c.4070_4071insCAGAAGGA | NP_009228.2:p.Ile1358ArgfsTer4 | |
| NM_007299.4:c.902_903insCAGAAGGA | NP_009230.2:p.Ile302ArgfsTer4 | |
| NM_007300.4:c.4211_4212insCAGAAGGA | NP_009231.2:p.Ile1405ArgfsTer4 | |
| NR_027676.2:n.4388_4389insCAGAAGGA |