Linked Data
gnomAD v2:
17-41234566-C-CTCCTTCTGA
MyVariant Identifiers:
chr17:g.41234566_41234567insTCCTTCTGA (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43082549_43082550insTCCTTCTGA , CM000679.2:g.43082549_43082550insTCCTTCTGA | GRCh38 |
| NC_000017.10:g.41234566_41234567insTCCTTCTGA , CM000679.1:g.41234566_41234567insTCCTTCTGA | GRCh37 |
| NC_000017.9:g.38488092_38488093insTCCTTCTGA | NCBI36 |
| NG_005905.2:g.135434_135435insTCAGAAGGA , LRG_292:g.135434_135435insTCAGAAGGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.4211_4212insTCAGAAGGA | ENSP00000417241.2:p.Leu1404_Ile1405insGlnLysGlu | |
| ENST00000470026.6:c.4211_4212insTCAGAAGGA | ENSP00000419274.2:p.Leu1404_Ile1405insGlnLysGlu | |
| ENST00000473961.6:c.4085_4086insTCAGAAGGA | ENSP00000420201.2:p.Leu1362_Ile1363insGlnLysGlu | |
| ENST00000476777.6:c.4205_4206insTCAGAAGGA | ENSP00000417554.2:p.Leu1402_Ile1403insGlnLysGlu | |
| ENST00000477152.6:c.4133_4134insTCAGAAGGA | ENSP00000419988.2:p.Leu1378_Ile1379insGlnLysGlu | |
| ENST00000478531.6:c.899_900insTCAGAAGGA | ENSP00000420412.2:p.Leu300_Ile301insGlnLysGlu | |
| ENST00000489037.2:c.4133_4134insTCAGAAGGA | ENSP00000420781.2:p.Leu1378_Ile1379insGlnLysGlu | |
| ENST00000493919.6:c.761_762insTCAGAAGGA | ENSP00000418819.2:p.Leu254_Ile255insGlnLysGlu | |
| ENST00000494123.6:c.4211_4212insTCAGAAGGA | ENSP00000419103.2:p.Leu1404_Ile1405insGlnLysGlu | |
| ENST00000497488.2:c.3323_3324insTCAGAAGGA | ENSP00000418986.2:p.Leu1108_Ile1109insGlnLysGlu | |
| ENST00000618469.2:c.4211_4212insTCAGAAGGA | ENSP00000478114.2:p.Leu1404_Ile1405insGlnLysGlu | |
| ENST00000634433.2:c.4088_4089insTCAGAAGGA | ENSP00000489431.2:p.Leu1363_Ile1364insGlnLysGlu | |
| ENST00000644379.2:c.4211_4212insTCAGAAGGA | ENSP00000496570.2:p.Leu1404_Ile1405insGlnLysGlu | |
| ENST00000644555.2:c.761_762insTCAGAAGGA | ENSP00000494614.2:p.Leu254_Ile255insGlnLysGlu | |
| ENST00000652672.2:c.4070_4071insTCAGAAGGA | ENSP00000498906.2:p.Leu1357_Ile1358insGlnLysGlu | |
| ENST00000484087.6:c.776_777insTCAGAAGGA | ENSP00000419481.2:p.Leu259_Ile260insGlnLysGlu | |
| ENST00000700182.1:c.821_822insTCAGAAGGA | ENSP00000514849.1:p.Leu274_Ile275insGlnLysGlu | |
| ENST00000357654.9:c.4211_4212insTCAGAAGGA MANE Select | ENSP00000350283.3:p.Leu1404_Ile1405insGlnLysGlu | |
| ENST00000471181.7:c.4211_4212insTCAGAAGGA | ENSP00000418960.2:p.Leu1404_Ile1405insGlnLysGlu | |
| ENST00000644379.1:c.532_533insTCAGAAGGA | ||
| ENST00000352993.7:c.785_786insTCAGAAGGA | ENSP00000312236.5:p.Leu262_Ile263insGlnLysGlu | |
| ENST00000357654.7:c.4211_4212insTCAGAAGGA | ENSP00000350283.3:p.Leu1404_Ile1405insGlnLysGlu | |
| ENST00000461221.5:c.*3994_*3995insTCAGAAGGA | ENSP00000418548.1:n.*3994_*3995insTCAGAAGGA | |
| ENST00000461574.1:c.505_506insTCAGAAGGA | ||
| ENST00000468300.5:c.902_903insTCAGAAGGA | ENSP00000417148.1:p.Leu301_Ile302insGlnLysGlu | |
| ENST00000471181.6:c.4211_4212insTCAGAAGGA | ENSP00000418960.2:p.Leu1404_Ile1405insGlnLysGlu | |
| ENST00000478531.5:c.899_900insTCAGAAGGA | ENSP00000420412.1:p.Leu300_Ile301insGlnLysGlu | |
| ENST00000484087.5:c.524_525insTCAGAAGGA | ENSP00000419481.1:p.Leu175_Ile176insGlnLysGlu | |
| ENST00000487825.5:c.527_528insTCAGAAGGA | ENSP00000418212.1:p.Leu176_Ile177insGlnLysGlu | |
| ENST00000491747.6:c.902_903insTCAGAAGGA | ENSP00000420705.2:p.Leu301_Ile302insGlnLysGlu | |
| ENST00000493795.5:c.4070_4071insTCAGAAGGA | ENSP00000418775.1:p.Leu1357_Ile1358insGlnLysGlu | |
| ENST00000493919.5:c.761_762insTCAGAAGGA | ENSP00000418819.1:p.Leu254_Ile255insGlnLysGlu | |
| ENST00000586385.5:c.5-18599_5-18598insTCAGAAGGA | ENSP00000465818.1:n.5-18599_5-18598insTCAGAAGGA | |
| ENST00000591534.5:c.-43-8029_-43-8028insTCAGAAGGA | ENSP00000467329.1:n.-43-8029_-43-8028insTCAGAAGGA | |
| ENST00000591849.5:c.-98-32360_-98-32359insTCAGAAGGA | ENSP00000465347.1:n.-98-32360_-98-32359insTCAGAAGGA | |
| ENST00000621897.1:n.105_106insTCAGAAGGA | ||
| NM_007294.3:c.4211_4212insTCAGAAGGA , LRG_292t1:c.4211_4212insTCAGAAGGA | NP_009225.1:p.Leu1404_Ile1405insGlnLysGlu | |
| NM_007297.3:c.4070_4071insTCAGAAGGA | NP_009228.2:p.Leu1357_Ile1358insGlnLysGlu | |
| NM_007298.3:c.902_903insTCAGAAGGA | NP_009229.2:p.Leu301_Ile302insGlnLysGlu | |
| NM_007299.3:c.902_903insTCAGAAGGA | NP_009230.2:p.Leu301_Ile302insGlnLysGlu | |
| NM_007300.3:c.4211_4212insTCAGAAGGA | NP_009231.2:p.Leu1404_Ile1405insGlnLysGlu | |
| NR_027676.1:n.4347_4348insTCAGAAGGA | ||
| NM_007294.4:c.4211_4212insTCAGAAGGA MANE Select | NP_009225.1:p.Leu1404_Ile1405insGlnLysGlu | |
| NM_007297.4:c.4070_4071insTCAGAAGGA | NP_009228.2:p.Leu1357_Ile1358insGlnLysGlu | |
| NM_007299.4:c.902_903insTCAGAAGGA | NP_009230.2:p.Leu301_Ile302insGlnLysGlu | |
| NM_007300.4:c.4211_4212insTCAGAAGGA | NP_009231.2:p.Leu1404_Ile1405insGlnLysGlu | |
| NR_027676.2:n.4388_4389insTCAGAAGGA |