Linked Data
dbSNP Id:
rs875989874
MyVariant Identifiers:
chr1:g.76226873_76226874insTAGAATGAGTTAC (hg19)
chr1:g.75761188_75761189insTAGAATGAGTTAC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.75761188_75761189insTAGAATGAGTTAC , CM000663.2:g.75761188_75761189insTAGAATGAGTTAC | GRCh38 |
| NC_000001.10:g.76226873_76226874insTAGAATGAGTTAC , CM000663.1:g.76226873_76226874insTAGAATGAGTTAC | GRCh37 |
| NC_000001.9:g.75999461_75999462insTAGAATGAGTTAC | NCBI36 |
| NG_007045.2:g.41831_41832insTAGAATGAGTTAC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370841.9:c.1012_1013insTAGAATGAGTTAC MANE Select | ENSP00000359878.5:p.Gln338LeufsTer3 | |
| ENST00000473018.3:n.3136_3137insTAGAATGAGTTAC | ||
| ENST00000532207.6:n.2023_2024insTAGAATGAGTTAC | ||
| ENST00000541113.6:c.916_917insTAGAATGAGTTAC | ENSP00000442324.2:p.Gln306LeufsTer3 | |
| ENST00000679509.1:n.1974_1975insTAGAATGAGTTAC | ||
| ENST00000679530.1:c.*780_*781insTAGAATGAGTTAC | ENSP00000506454.1:n.*780_*781insTAGAATGAG... | |
| ENST00000679615.1:n.3027_3028insTAGAATGAGTTAC | ||
| ENST00000679687.1:c.574_575insTAGAATGAGTTAC | ENSP00000506598.1:p.Gln192LeufsTer3 | |
| ENST00000679704.1:c.*778_*779insTAGAATGAGTTAC | ENSP00000505117.1:n.*778_*779insTAGAATGAG... | |
| ENST00000679709.1:c.*975_*976insTAGAATGAGTTAC | ENSP00000506623.1:n.*975_*976insTAGAATGAG... | |
| ENST00000679976.1:c.*596_*597insTAGAATGAGTTAC | ENSP00000505565.1:n.*596_*597insTAGAATGAG... | |
| ENST00000680166.1:n.4301_4302insTAGAATGAGTTAC | ||
| ENST00000680315.1:n.895_896insTAGAATGAGTTAC | ||
| ENST00000680517.1:c.*400_*401insTAGAATGAGTTAC | ENSP00000505803.1:n.*400_*401insTAGAATGAG... | |
| ENST00000680582.1:n.1974_1975insTAGAATGAGTTAC | ||
| ENST00000680613.1:c.*505_*506insTAGAATGAGTTAC | ENSP00000506114.1:n.*505_*506insTAGAATGAG... | |
| ENST00000680662.1:c.*926_*927insTAGAATGAGTTAC | ENSP00000505080.1:n.*926_*927insTAGAATGAG... | |
| ENST00000680691.1:c.*675_*676insTAGAATGAGTTAC | ENSP00000506487.1:n.*675_*676insTAGAATGAG... | |
| ENST00000680694.1:c.*600_*601insTAGAATGAGTTAC | ENSP00000505658.1:n.*600_*601insTAGAATGAG... | |
| ENST00000680743.1:c.*801_*802insTAGAATGAGTTAC | ENSP00000505073.1:n.*801_*802insTAGAATGAG... | |
| ENST00000680749.1:c.*297_*298insTAGAATGAGTTAC | ENSP00000505122.1:n.*297_*298insTAGAATGAG... | |
| ENST00000680798.1:c.*487_*488insTAGAATGAGTTAC | ENSP00000505670.1:n.*487_*488insTAGAATGAG... | |
| ENST00000680805.1:c.871_872insTAGAATGAGTTAC | ENSP00000505447.1:p.Gln291LeufsTer3 | |
| ENST00000680844.1:c.*796_*797insTAGAATGAGTTAC | ENSP00000506541.1:n.*796_*797insTAGAATGAG... | |
| ENST00000680948.1:c.*879_*880insTAGAATGAGTTAC | ENSP00000505441.1:n.*879_*880insTAGAATGAG... | |
| ENST00000680964.1:c.*105_*106insTAGAATGAGTTAC | ENSP00000505961.1:n.*105_*106insTAGAATGAG... | |
| ENST00000681037.1:c.*2496_*2497insTAGAATGAGTTAC | ENSP00000506025.1:n.*2496_*2497insTAGAATG... | |
| ENST00000681063.1:c.*281_*282insTAGAATGAGTTAC | ENSP00000506616.1:n.*281_*282insTAGAATGAG... | |
| ENST00000681209.1:c.*667_*668insTAGAATGAGTTAC | ENSP00000505877.1:n.*667_*668insTAGAATGAG... | |
| ENST00000681278.1:n.1714_1715insTAGAATGAGTTAC | ||
| ENST00000681289.1:n.5007_5008insTAGAATGAGTTAC | ||
| ENST00000681361.1:c.*679_*680insTAGAATGAGTTAC | ENSP00000506679.1:n.*679_*680insTAGAATGAG... | |
| ENST00000681430.1:c.*105_*106insTAGAATGAGTTAC | ENSP00000506301.1:n.*105_*106insTAGAATGAG... | |
| ENST00000681446.1:c.*716_*717insTAGAATGAGTTAC | ENSP00000506244.1:n.*716_*717insTAGAATGAG... | |
| ENST00000681450.1:c.*683_*684insTAGAATGAGTTAC | ENSP00000505660.1:n.*683_*684insTAGAATGAG... | |
| ENST00000681548.1:c.*598_*599insTAGAATGAGTTAC | ENSP00000505275.1:n.*598_*599insTAGAATGAG... | |
| ENST00000681616.1:c.*671_*672insTAGAATGAGTTAC | ENSP00000505111.1:n.*671_*672insTAGAATGAG... | |
| ENST00000681621.1:c.*596_*597insTAGAATGAGTTAC | ENSP00000505770.1:n.*596_*597insTAGAATGAG... | |
| ENST00000681680.1:n.3107_3108insTAGAATGAGTTAC | ||
| ENST00000681720.1:c.*467_*468insTAGAATGAGTTAC | ENSP00000505438.1:n.*467_*468insTAGAATGAG... | |
| ENST00000681730.1:n.1234_1235insTAGAATGAGTTAC | ||
| ENST00000681790.1:c.754_755insTAGAATGAGTTAC | ENSP00000505130.1:p.Gln252LeufsTer3 | |
| ENST00000681837.1:n.1628_1629insTAGAATGAGTTAC | ||
| ENST00000681913.1:n.3258_3259insTAGAATGAGTTAC | ||
| ENST00000681916.1:c.*780_*781insTAGAATGAGTTAC | ENSP00000506477.1:n.*780_*781insTAGAATGAG... | |
| ENST00000681930.1:n.3136_3137insTAGAATGAGTTAC | ||
| ENST00000370834.9:c.1111_1112insTAGAATGAGTTAC | ENSP00000359871.5:p.Gln371LeufsTer3 | |
| ENST00000370841.8:c.1012_1013insTAGAATGAGTTAC | ENSP00000359878.4:p.Gln338LeufsTer3 | |
| ENST00000420607.6:c.1024_1025insTAGAATGAGTTAC | ENSP00000409612.2:p.Gln342LeufsTer3 | |
| ENST00000481374.1:n.285_286insTAGAATGAGTTAC | ||
| ENST00000525808.5:c.*598_*599insTAGAATGAGTTAC | ENSP00000434823.1:n.*598_*599insTAGAATGAG... | |
| ENST00000526129.5:c.*796_*797insTAGAATGAGTTAC | ENSP00000434092.1:n.*796_*797insTAGAATGAG... | |
| ENST00000526196.5:c.*780_*781insTAGAATGAGTTAC | ENSP00000431953.1:n.*780_*781insTAGAATGAG... | |
| ENST00000528016.1:c.160-7989_160-7988insTAGAATGAGTTAC | ENSP00000434284.1:n.160-7989_160-7988insT... | |
| ENST00000529059.5:n.921_922insTAGAATGAGTTAC | ||
| ENST00000532207.5:n.742_743insTAGAATGAGTTAC | ||
| ENST00000534334.5:c.*753_*754insTAGAATGAGTTAC | ENSP00000435584.1:n.*753_*754insTAGAATGAG... | |
| ENST00000541113.5:c.904_905insTAGAATGAGTTAC | ENSP00000442324.1:p.Gln302LeufsTer3 | |
| NM_000016.5:c.1012_1013insTAGAATGAGTTAC | NP_000007.1:p.Gln338LeufsTer3 | |
| NM_001127328.2:c.1024_1025insTAGAATGAGTTAC | NP_001120800.1:p.Gln342LeufsTer3 | |
| NM_001286042.1:c.904_905insTAGAATGAGTTAC | NP_001272971.1:p.Gln302LeufsTer3 | |
| NM_001286043.1:c.1111_1112insTAGAATGAGTTAC | NP_001272972.1:p.Gln371LeufsTer3 | |
| NM_001286044.1:c.445_446insTAGAATGAGTTAC | NP_001272973.1:p.Gln149LeufsTer3 | |
| NM_000016.6:c.1012_1013insTAGAATGAGTTAC MANE Select | NP_000007.1:p.Gln338LeufsTer3 | |
| NM_001127328.3:c.1024_1025insTAGAATGAGTTAC | NP_001120800.1:p.Gln342LeufsTer3 | |
| NM_001286042.2:c.904_905insTAGAATGAGTTAC | NP_001272971.1:p.Gln302LeufsTer3 | |
| NM_001286043.2:c.1111_1112insTAGAATGAGTTAC | NP_001272972.1:p.Gln371LeufsTer3 | |
| NM_001286044.2:c.445_446insTAGAATGAGTTAC | NP_001272973.1:p.Gln149LeufsTer3 |