Linked Data
dbSNP Id:
rs1675129412
gnomAD v3:
2-88859769-T-TCGGCAGAA
gnomAD v4:
2-88859769-T-TCGGCAGAA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.88859769_88859770insCGGCAGAA , CM000664.2:g.88859769_88859770insCGGCAGAA | GRCh38 |
| NC_000002.11:g.89159281_89159282insCGGCAGAA , CM000664.1:g.89159281_89159282insCGGCAGAA | GRCh37 |
| NC_000002.10:g.88940396_88940397insCGGCAGAA | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377423.6:c.389-2087_389-2086insTTCTGCCG (IGKV1-12) | ENSP00000480537.2:n.389-2087_389-2086insTTCTGCCG | |
| ENST00000430694.5:c.37+1116_37+1117insTTCTGCCG (IGKC) | ENSP00000481923.2:n.37+1116_37+1117insTTCTGCCG | |
| ENST00000610638.3:c.397+1755_397+1756insTTCTGCCG (IGKC) | ENSP00000484499.3:n.397+1755_397+1756insTTCTGCCG | |
| ENST00000634828.1:c.382+1755_382+1756insTTCTGCCG (IGKV1-8) | ENSP00000489500.1:n.382+1755_382+1756insTTCTGCCG |