Linked Data
dbSNP Id:
rs1318235508
gnomAD v2:
1-6529238-C-CCTCCTCCTGCTCAT
MyVariant Identifiers:
chr1:g.6529238_6529239insCTCCTCCTGCTCAT (hg19)
chr1:g.6469178_6469179insCTCCTCCTGCTCAT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.6469179_6469180insTCCTCCTGCTCATC , CM000663.2:g.6469179_6469180insTCCTCCTGCTCATC | GRCh38 |
| NC_000001.10:g.6529239_6529240insTCCTCCTGCTCATC , CM000663.1:g.6529239_6529240insTCCTCCTGCTCATC | GRCh37 |
| NC_000001.9:g.6451826_6451827insTCCTCCTGCTCATC | NCBI36 |
| NG_007978.1:g.55831_55832insATGAGCAGGAGGAG , LRG_262:g.55831_55832insATGAGCAGGAGGAG | |
| NG_029910.1:g.2017_2018insATGAGCAGGAGGAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340850.10:c.2112_2113insATGAGCAGGAGGAG | ENSP00000344570.5:p.Glu705MetfsTer? | |
| ENST00000377728.8:c.2112_2113insATGAGCAGGAGGAG MANE Select | ENSP00000366957.3:p.Glu705MetfsTer? | |
| ENST00000377740.5:c.2112_2113insATGAGCAGGAGGAG | ENSP00000366969.4:p.Glu705MetfsTer? | |
| ENST00000377748.6:c.2286_2287insATGAGCAGGAGGAG | ENSP00000366977.2:p.Glu763MetfsTer? | |
| ENST00000400913.6:c.2112_2113insATGAGCAGGAGGAG | ENSP00000383704.1:p.Glu705MetfsTer? | |
| ENST00000400915.8:c.2223_2224insATGAGCAGGAGGAG | ENSP00000383706.4:p.Glu742MetfsTer? | |
| ENST00000489097.6:n.2588_2589insATGAGCAGGAGGAG | ||
| ENST00000535355.6:c.2319_2320insATGAGCAGGAGGAG | ENSP00000441445.1:p.Glu774MetfsTer? | |
| ENST00000537245.6:c.2223_2224insATGAGCAGGAGGAG | ENSP00000439625.2:p.Glu742MetfsTer? | |
| ENST00000673471.2:c.2409_2410insATGAGCAGGAGGAG | ENSP00000500749.1:p.Glu804MetfsTer? | |
| ENST00000674790.1:c.*2324_*2325insATGAGCAGGAGGAG | ENSP00000502815.1:n.*2324_*2325insATGAGCAGGAGGAG | |
| ENST00000675123.1:c.2112_2113insATGAGCAGGAGGAG | ENSP00000502132.1:p.Glu705MetfsTer? | |
| ENST00000675139.1:n.183_184insATGAGCAGGAGGAG | ||
| ENST00000675548.1:c.*1940_*1941insATGAGCAGGAGGAG | ENSP00000502684.1:n.*1940_*1941insATGAGCAGGAGGAG | |
| ENST00000675694.1:c.2112_2113insATGAGCAGGAGGAG | ENSP00000501925.1:p.Glu705MetfsTer? | |
| ENST00000340850.9:c.2112_2113insATGAGCAGGAGGAG | ENSP00000344570.5:p.Glu705MetfsTer? | |
| ENST00000377725.5:c.2112_2113insATGAGCAGGAGGAG | ENSP00000366954.1:p.Glu705MetfsTer? | |
| ENST00000377728.7:c.2112_2113insATGAGCAGGAGGAG | ENSP00000366957.3:p.Glu705MetfsTer? | |
| ENST00000377732.5:c.2223_2224insATGAGCAGGAGGAG | ENSP00000366961.1:p.Glu742MetfsTer? | |
| ENST00000377740.4:c.2343_2344insATGAGCAGGAGGAG | ENSP00000366969.3:p.Glu782MetfsTer? | |
| ENST00000377748.5:c.2343_2344insATGAGCAGGAGGAG | ENSP00000366977.1:p.Glu782MetfsTer? | |
| ENST00000400913.5:c.2112_2113insATGAGCAGGAGGAG | ENSP00000383704.1:p.Glu705MetfsTer? | |
| ENST00000400915.7:c.2280_2281insATGAGCAGGAGGAG | ENSP00000383706.3:p.Glu761MetfsTer? | |
| ENST00000487949.4:n.1314_1315insATGAGCAGGAGGAG | ||
| ENST00000489097.5:n.2588_2589insATGAGCAGGAGGAG | ||
| ENST00000535355.5:c.2319_2320insATGAGCAGGAGGAG | ENSP00000441445.1:p.Glu774MetfsTer? | |
| ENST00000537245.5:c.2349_2350insATGAGCAGGAGGAG | ENSP00000439625.1:p.Glu784MetfsTer? | |
| NM_001042663.1:c.2280_2281insATGAGCAGGAGGAG | NP_001036128.1:p.Glu761MetfsTer? | |
| NM_001042664.1:c.2112_2113insATGAGCAGGAGGAG | NP_001036129.1:p.Glu705MetfsTer? | |
| NM_001042665.1:c.2112_2113insATGAGCAGGAGGAG | NP_001036130.1:p.Glu705MetfsTer? | |
| NM_001265592.1:c.2349_2350insATGAGCAGGAGGAG | NP_001252521.1:p.Glu784MetfsTer? | |
| NM_001265593.1:c.2319_2320insATGAGCAGGAGGAG | NP_001252522.1:p.Glu774MetfsTer? | |
| NM_001265594.1:c.2112_2113insATGAGCAGGAGGAG | NP_001252523.1:p.Glu705MetfsTer? | |
| NM_020631.4:c.2112_2113insATGAGCAGGAGGAG | NP_065682.2:p.Glu705MetfsTer? | |
| NM_198681.3:c.2343_2344insATGAGCAGGAGGAG | NP_941374.2:p.Glu782MetfsTer? | |
| NM_001042663.2:c.2280_2281insATGAGCAGGAGGAG | NP_001036128.1:p.Glu761MetfsTer? | |
| NM_001265594.2:c.2112_2113insATGAGCAGGAGGAG | NP_001252523.1:p.Glu705MetfsTer? | |
| NM_020631.5:c.2112_2113insATGAGCAGGAGGAG | NP_065682.2:p.Glu705MetfsTer? | |
| NM_001042663.3:c.2223_2224insATGAGCAGGAGGAG | NP_001036128.2:p.Glu742MetfsTer? | |
| NM_001265592.2:c.2223_2224insATGAGCAGGAGGAG | NP_001252521.2:p.Glu742MetfsTer? | |
| NM_020631.6:c.2112_2113insATGAGCAGGAGGAG MANE Select | NP_065682.2:p.Glu705MetfsTer? | |
| NM_198681.4:c.2112_2113insATGAGCAGGAGGAG | NP_941374.3:p.Glu705MetfsTer? |