Linked Data
ClinVar Variation Id:
226099
ClinVar RCV Id:
RCV000211529
dbSNP Id:
rs875989872
gnomAD v3:
1-75749524-GTTGCAATGGGAGC-G
gnomAD v4:
1-75749524-GTTGCAATGGGAGC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.75749527_75749539del , CM000663.2:g.75749527_75749539del | GRCh38 |
| NC_000001.10:g.76215212_76215224del , CM000663.1:g.76215212_76215224del | GRCh37 |
| NC_000001.9:g.75987800_75987812del | NCBI36 |
| NG_007045.2:g.30170_30182del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370841.9:c.817_829del MANE Select | ENSP00000359878.5:p.Ala273LeufsTer7 | |
| ENST00000473018.3:n.2941_2953del | ||
| ENST00000532207.6:n.1706_1718del | ||
| ENST00000541113.6:c.817_829del | ENSP00000442324.2:p.Ala273LeufsTer20 | |
| ENST00000679509.1:n.1779_1791del | ||
| ENST00000679530.1:c.*585_*597del | ENSP00000506454.1:n.*585_*597del | |
| ENST00000679615.1:n.2832_2844del | ||
| ENST00000679687.1:c.379_391del | ENSP00000506598.1:p.Ala127LeufsTer7 | |
| ENST00000679704.1:c.*583_*595del | ENSP00000505117.1:n.*583_*595del | |
| ENST00000679709.1:c.*780_*792del | ENSP00000506623.1:n.*780_*792del | |
| ENST00000679976.1:c.*401_*413del | ENSP00000505565.1:n.*401_*413del | |
| ENST00000680166.1:n.4106_4118del | ||
| ENST00000680517.1:c.*205_*217del | ENSP00000505803.1:n.*205_*217del | |
| ENST00000680582.1:n.1779_1791del | ||
| ENST00000680613.1:c.*188_*200del | ENSP00000506114.1:n.*188_*200del | |
| ENST00000680662.1:c.*731_*743del | ENSP00000505080.1:n.*731_*743del | |
| ENST00000680691.1:c.*480_*492del | ENSP00000506487.1:n.*480_*492del | |
| ENST00000680694.1:c.*405_*417del | ENSP00000505658.1:n.*405_*417del | |
| ENST00000680743.1:c.*484_*496del | ENSP00000505073.1:n.*484_*496del | |
| ENST00000680749.1:c.*102_*114del | ENSP00000505122.1:n.*102_*114del | |
| ENST00000680798.1:c.*292_*304del | ENSP00000505670.1:n.*292_*304del | |
| ENST00000680805.1:c.709-924_709-912del | ENSP00000505447.1:n.709-924_709-912del | |
| ENST00000680844.1:c.*601_*613del | ENSP00000506541.1:n.*601_*613del | |
| ENST00000680948.1:c.*684_*696del | ENSP00000505441.1:n.*684_*696del | |
| ENST00000680964.1:c.817_829del | ENSP00000505961.1:p.Ala273LeufsTer7 | |
| ENST00000681037.1:c.*2301_*2313del | ENSP00000506025.1:n.*2301_*2313del | |
| ENST00000681063.1:c.600-924_600-912del | ENSP00000506616.1:n.600-924_600-912del | |
| ENST00000681209.1:c.*472_*484del | ENSP00000505877.1:n.*472_*484del | |
| ENST00000681278.1:n.1174_1186del | ||
| ENST00000681289.1:n.4812_4824del | ||
| ENST00000681361.1:c.*484_*496del | ENSP00000506679.1:n.*484_*496del | |
| ENST00000681430.1:c.817_829del | ENSP00000506301.1:p.Ala273LeufsTer7 | |
| ENST00000681446.1:c.*399_*411del | ENSP00000506244.1:n.*399_*411del | |
| ENST00000681450.1:c.*488_*500del | ENSP00000505660.1:n.*488_*500del | |
| ENST00000681548.1:c.*403_*415del | ENSP00000505275.1:n.*403_*415del | |
| ENST00000681616.1:c.*476_*488del | ENSP00000505111.1:n.*476_*488del | |
| ENST00000681621.1:c.*401_*413del | ENSP00000505770.1:n.*401_*413del | |
| ENST00000681680.1:n.2912_2924del | ||
| ENST00000681720.1:c.*272_*284del | ENSP00000505438.1:n.*272_*284del | |
| ENST00000681730.1:n.1039_1051del | ||
| ENST00000681790.1:c.559_571del | ENSP00000505130.1:p.Ala187LeufsTer7 | |
| ENST00000681837.1:n.1433_1445del | ||
| ENST00000681913.1:n.2941_2953del | ||
| ENST00000681916.1:c.*585_*597del | ENSP00000506477.1:n.*585_*597del | |
| ENST00000681930.1:n.2941_2953del | ||
| ENST00000370834.9:c.916_928del | ENSP00000359871.5:p.Ala306LeufsTer7 | |
| ENST00000370841.8:c.817_829del | ENSP00000359878.4:p.Ala273LeufsTer7 | |
| ENST00000420607.6:c.829_841del | ENSP00000409612.2:p.Ala277LeufsTer7 | |
| ENST00000525808.5:c.*403_*415del | ENSP00000434823.1:n.*403_*415del | |
| ENST00000526129.5:c.*601_*613del | ENSP00000434092.1:n.*601_*613del | |
| ENST00000526196.5:c.*585_*597del | ENSP00000431953.1:n.*585_*597del | |
| ENST00000528016.1:c.31_43del | ENSP00000434284.1:p.Ala11LeufsTer7 | |
| ENST00000529059.5:n.726_738del | ||
| ENST00000530953.6:c.*314_*326del | ENSP00000431372.1:n.*314_*326del | |
| ENST00000532207.5:n.547_559del | ||
| ENST00000532509.5:c.*581_*593del | ENSP00000432522.1:n.*581_*593del | |
| ENST00000534334.5:c.*401_*413del | ENSP00000435584.1:n.*401_*413del | |
| ENST00000541113.5:c.709_721del | ENSP00000442324.1:p.Ala237LeufsTer7 | |
| NM_000016.5:c.817_829del | NP_000007.1:p.Ala273LeufsTer7 | |
| NM_001127328.2:c.829_841del | NP_001120800.1:p.Ala277LeufsTer7 | |
| NM_001286042.1:c.709_721del | NP_001272971.1:p.Ala237LeufsTer7 | |
| NM_001286043.1:c.916_928del | NP_001272972.1:p.Ala306LeufsTer7 | |
| NM_001286044.1:c.250_262del | NP_001272973.1:p.Ala84LeufsTer7 | |
| NM_000016.6:c.817_829del MANE Select | NP_000007.1:p.Ala273LeufsTer7 | |
| NM_001127328.3:c.829_841del | NP_001120800.1:p.Ala277LeufsTer7 | |
| NM_001286042.2:c.709_721del | NP_001272971.1:p.Ala237LeufsTer7 | |
| NM_001286043.2:c.916_928del | NP_001272972.1:p.Ala306LeufsTer7 | |
| NM_001286044.2:c.250_262del | NP_001272973.1:p.Ala84LeufsTer7 |