Linked Data
dbSNP Id:
rs1283206162
MyVariant Identifiers:
chr15:g.89861549_89861550insAGGGAA (hg19)
chr15:g.89318318_89318319insAGGGAA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89318318_89318319insAGGGAA , CM000677.2:g.89318318_89318319insAGGGAA | GRCh38 |
| NC_000015.9:g.89861549_89861550insAGGGAA , CM000677.1:g.89861549_89861550insAGGGAA | GRCh37 |
| NC_000015.8:g.87662553_87662554insAGGGAA | NCBI36 |
| NG_008218.1:g.21477_21478insTTCCCT | |
| NG_011736.1:g.79356_79357insAGGGAA , LRG_500:g.79356_79357insAGGGAA | |
| NG_008218.2:g.21477_21478insTTCCCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.3482+222_3482+223insTTCCCT | ENSP00000516154.1:n.3482+222_3482+223insTTCCCT | |
| ENST00000268124.11:c.3482+222_3482+223insTTCCCT MANE Select | ENSP00000268124.5:n.3482+222_3482+223insTTCCCT | |
| ENST00000530292.3:c.3083+222_3083+223insTTCCCT | ENSP00000432885.2:n.3083+222_3083+223insTTCCCT | |
| ENST00000635986.2:c.*552+222_*552+223insTTCCCT | ENSP00000490653.2:n.*552+222_*552+223insTTCCCT | |
| ENST00000636774.1:c.*2049+222_*2049+223insTTCCCT | ENSP00000489799.1:n.*2049+222_*2049+223insTTCCCT | |
| ENST00000637238.1:c.2291+222_2291+223insTTCCCT | ENSP00000490756.1:n.2291+222_2291+223insTTCCCT | |
| ENST00000637264.1:c.2554+222_2554+223insTTCCCT | ||
| ENST00000666746.1:c.3059+222_3059+223insTTCCCT | ||
| ENST00000672071.1:n.3902_3903insTTCCCT | ||
| ENST00000672695.1:n.881_882insTTCCCT | ||
| ENST00000672923.2:n.3482+222_3482+223insTTCCCT | ||
| ENST00000268124.9:c.3482+222_3482+223insTTCCCT | ENSP00000268124.5:n.3482+222_3482+223insTTCCCT | |
| ENST00000442287.6:c.3482+222_3482+223insTTCCCT | ENSP00000399851.2:n.3482+222_3482+223insTTCCCT | |
| ENST00000530292.2:c.566+222_566+223insTTCCCT | ENSP00000432885.1:n.566+222_566+223insTTCCCT | |
| ENST00000631044.2:c.*2906+222_*2906+223insTTCCCT | ENSP00000486730.1:n.*2906+222_*2906+223insTTCCCT | |
| NM_001126131.1:c.3482+222_3482+223insTTCCCT | NP_001119603.1:n.3482+222_3482+223insTTCCCT | |
| NM_002693.2:c.3482+222_3482+223insTTCCCT | NP_002684.1:n.3482+222_3482+223insTTCCCT | |
| NM_001126131.2:c.3482+222_3482+223insTTCCCT | NP_001119603.1:n.3482+222_3482+223insTTCCCT | |
| NM_002693.3:c.3482+222_3482+223insTTCCCT MANE Select | NP_002684.1:n.3482+222_3482+223insTTCCCT |