Linked Data
ClinVar Variation Id:
662146
ClinVar RCV Id:
RCV000819729
dbSNP Id:
rs1597698326
gnomAD v4:
17-31214458-C-CATTTAAAGAAAAAGTAACAAGCCTTAA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31214472_31214498dup , CM000679.2:g.31214472_31214498dup | GRCh38 |
| NC_000017.10:g.29541490_29541516dup , CM000679.1:g.29541490_29541516dup | GRCh37 |
| NC_000017.9:g.26565616_26565642dup | NCBI36 |
| NG_009018.1:g.124496_124522dup , LRG_214:g.124496_124522dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696138.1:c.1459_1485dup | ENSP00000512431.1:p.Lys495_Pro496insValThrSerLeuLysPheLysGluL... | |
| ENST00000686189.1:c.859_885dup | ENSP00000509682.1:p.Lys295_Pro296insValThrSerLeuLysPheLysGluL... | |
| ENST00000691014.1:c.1444_1470dup | ENSP00000510595.1:p.Lys490_Pro491insValThrSerLeuLysPheLysGluL... | |
| ENST00000358273.9:c.1414_1440dup MANE Select | ENSP00000351015.4:p.Lys480_Pro481insValThrSerLeuLysPheLysGluL... | |
| ENST00000356175.7:c.1414_1440dup | ENSP00000348498.3:p.Lys480_Pro481insValThrSerLeuLysPheLysGluL... | |
| ENST00000358273.8:c.1414_1440dup | ENSP00000351015.4:p.Lys480_Pro481insValThrSerLeuLysPheLysGluL... | |
| ENST00000431387.8:c.1414_1440dup | ENSP00000412921.4:p.Lys480_Pro481insValThrSerLeuLysPheLysGluL... | |
| ENST00000456735.6:c.412_438dup | ENSP00000389907.2:p.Lys146_Pro147insValThrSerLeuLysPheLysGluL... | |
| ENST00000487476.5:n.1797_1823dup | ||
| ENST00000495910.6:c.1189_1215dup | ||
| ENST00000579081.5:c.1516_1542dup | ENSP00000462408.1:p.Lys514_Pro515insValThrSerLeuLysPheLysGluL... | |
| NM_000267.3:c.1414_1440dup , LRG_214t1:c.1414_1440dup | NP_000258.1:p.Lys480_Pro481insValThrSerLeuLysPheLysGluLys | |
| NM_001042492.2:c.1414_1440dup , LRG_214t2:c.1414_1440dup | NP_001035957.1:p.Lys480_Pro481insValThrSerLeuLysPheLysGluLys | |
| NM_001128147.2:c.1414_1440dup | NP_001121619.1:p.Lys480_Pro481insValThrSerLeuLysPheLysGluLys | |
| XM_005257983.1:c.1414_1440dup | XP_005258040.1:p.Lys480_Pro481insValThrSerLeuLysPheLysGluLys | |
| XM_005257984.1:c.1414_1440dup | XP_005258041.1:p.Lys480_Pro481insValThrSerLeuLysPheLysGluLys | |
| XM_006721922.1:c.1444_1470dup | XP_006721985.1:p.Lys490_Pro491insValThrSerLeuLysPheLysGluLys | |
| XM_006721923.2:c.1405_1431dup | XP_006721986.1:p.Lys477_Pro478insValThrSerLeuLysPheLysGluLys | |
| XM_006721924.1:c.1444_1470dup | XP_006721987.1:p.Lys490_Pro491insValThrSerLeuLysPheLysGluLys | |
| XM_006721925.1:c.1444_1470dup | XP_006721988.1:p.Lys490_Pro491insValThrSerLeuLysPheLysGluLys | |
| XM_006721926.2:c.1444_1470dup | XP_006721989.1:p.Lys490_Pro491insValThrSerLeuLysPheLysGluLys | |
| XM_006721927.1:c.1444_1470dup | XP_006721990.1:p.Lys490_Pro491insValThrSerLeuLysPheLysGluLys | |
| XM_006721928.2:c.1444_1470dup | XP_006721991.1:p.Lys490_Pro491insValThrSerLeuLysPheLysGluLys | |
| XM_011524852.1:c.1444_1470dup | XP_011523154.1:p.Lys490_Pro491insValThrSerLeuLysPheLysGluLys | |
| XM_011524853.1:c.1405_1431dup | XP_011523155.1:p.Lys477_Pro478insValThrSerLeuLysPheLysGluLys | |
| XM_011524854.1:c.1405_1431dup | XP_011523156.1:p.Lys477_Pro478insValThrSerLeuLysPheLysGluLys | |
| XM_011524855.1:c.1405_1431dup | XP_011523157.1:p.Lys477_Pro478insValThrSerLeuLysPheLysGluLys | |
| XM_011524856.1:c.1405_1431dup | XP_011523158.1:p.Lys477_Pro478insValThrSerLeuLysPheLysGluLys | |
| XM_011524857.1:c.1444_1470dup | XP_011523159.1:p.Lys490_Pro491insValThrSerLeuLysPheLysGluLys | |
| NM_001042492.3:c.1414_1440dup MANE Select | NP_001035957.1:p.Lys480_Pro481insValThrSerLeuLysPheLysGluLys | |
| NM_001128147.3:c.1414_1440dup | NP_001121619.1:p.Lys480_Pro481insValThrSerLeuLysPheLysGluLys |