Linked Data
ClinVar Variation Id:
1693197
ClinVar RCV Id:
RCV002260457
dbSNP Id:
rs754133577
gnomAD v2:
18-29121194-GGCGCCAAAGGCTTT-G
gnomAD v4:
18-31541231-GGCGCCAAAGGCTTT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31541232_31541245del , CM000680.2:g.31541232_31541245del | GRCh38 |
| NC_000018.9:g.29121195_29121208del , CM000680.1:g.29121195_29121208del | GRCh37 |
| NC_000018.8:g.27375193_27375206del | NCBI36 |
| NG_007072.3:g.47991_48004del , LRG_397:g.47991_48004del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261590.13:c.1919_1932del MANE Select | ENSP00000261590.8:p.Gly640AspfsTer15 | |
| ENST00000261590.12:c.1919_1932del | ENSP00000261590.8:p.Gly640AspfsTer15 | |
| NM_001943.3:c.1919_1932del , LRG_397t1:c.1919_1932del | NP_001934.2:p.Gly640AspfsTer15 | |
| NM_001943.4:c.1919_1932del | NP_001934.2:p.Gly640AspfsTer15 | |
| XM_024451095.1:c.1385_1398del | XP_024306863.1:p.Gly462AspfsTer15 | |
| NM_001943.5:c.1919_1932del MANE Select | NP_001934.2:p.Gly640AspfsTer15 |