Linked Data
ClinVar Variation Id:
1266700
ClinVar RCV Id:
RCV001670369
dbSNP Id:
rs61234630
gnomAD v2:
1-161326883-G-GTTAA
gnomAD v3:
1-161357093-G-GTTAA
gnomAD v4:
1-161357093-G-GTTAA
MyVariant Identifiers:
chr1:g.161326883_161326884insTTAA (hg19)
chr1:g.161357093_161357094insTTAA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161357095_161357096insAATT , CM000663.2:g.161357095_161357096insAATT | GRCh38 |
| NC_000001.10:g.161326885_161326886insAATT , CM000663.1:g.161326885_161326886insAATT | GRCh37 |
| NC_000001.9:g.159593509_159593510insAATT | NCBI36 |
| NG_012767.1:g.47720_47721insAATT , LRG_317:g.47720_47721insAATT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470743.5:c.*406+255_*406+256insAATT | ENSP00000482902.2:n.*406+255_*406+256insAATT | |
| ENST00000367975.7:c.405+255_405+256insAATT MANE Select | ENSP00000356953.3:n.405+255_405+256insAATT | |
| ENST00000342751.8:c.242-5234_242-5233insAATT | ENSP00000356952.3:n.242-5234_242-5233insAATT | |
| ENST00000367975.6:c.405+255_405+256insAATT | ENSP00000356953.2:n.405+255_405+256insAATT | |
| ENST00000392169.6:c.246+255_246+256insAATT | ENSP00000376009.2:n.246+255_246+256insAATT | |
| ENST00000432287.6:c.303+255_303+256insAATT | ENSP00000390558.2:n.303+255_303+256insAATT | |
| ENST00000470743.4:c.503+255_503+256insAATT | ||
| ENST00000504963.5:c.*228+255_*228+256insAATT | ENSP00000423929.1:n.*228+255_*228+256insAATT | |
| ENST00000513009.5:c.140-5234_140-5233insAATT | ENSP00000423260.1:n.140-5234_140-5233insAATT | |
| NM_001035511.1:c.242-5234_242-5233insAATT | NP_001030588.1:n.242-5234_242-5233insAATT | |
| NM_001035512.1:c.303+255_303+256insAATT | NP_001030589.1:n.303+255_303+256insAATT | |
| NM_001035513.1:c.246+255_246+256insAATT | NP_001030590.1:n.246+255_246+256insAATT | |
| NM_001278172.1:c.140-5234_140-5233insAATT | NP_001265101.1:n.140-5234_140-5233insAATT | |
| NM_003001.3:c.405+255_405+256insAATT , LRG_317t1:c.405+255_405+256insAATT | NP_002992.1:n.405+255_405+256insAATT | |
| NR_103459.1:n.462+255_462+256insAATT | ||
| NM_001035511.2:c.242-5234_242-5233insAATT | NP_001030588.1:n.242-5234_242-5233insAATT | |
| NM_001035512.2:c.303+255_303+256insAATT | NP_001030589.1:n.303+255_303+256insAATT | |
| NM_001035513.2:c.246+255_246+256insAATT | NP_001030590.1:n.246+255_246+256insAATT | |
| NM_001278172.2:c.140-5234_140-5233insAATT | NP_001265101.1:n.140-5234_140-5233insAATT | |
| NM_003001.5:c.405+255_405+256insAATT MANE Select | NP_002992.1:n.405+255_405+256insAATT | |
| NR_103459.2:n.457+255_457+256insAATT |