Linked Data
ClinVar Variation Id:
1253453
ClinVar RCV Id:
RCV001663010
dbSNP Id:
rs140824245
gnomAD v2:
7-116411848-C-CCT
gnomAD v3:
7-116771794-C-CCT
gnomAD v4:
7-116771794-C-CCT
COSMIC:
COSN17141890
MyVariant Identifiers:
chr7:g.116411848_116411849insCT (hg19)
chr7:g.116771794_116771795insCT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.116771795_116771796dup , CM000669.2:g.116771795_116771796dup | GRCh38 |
| NC_000007.13:g.116411849_116411850dup , CM000669.1:g.116411849_116411850dup | GRCh37 |
| NC_000007.12:g.116199085_116199086dup | NCBI36 |
| NG_008996.1:g.104391_104392dup , LRG_662:g.104391_104392dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000436117.3:c.*493-54_*493-53dup | ENSP00000410980.2:n.*493-54_*493-53dup | |
| ENST00000318493.11:c.2942-54_2942-53dup | ENSP00000317272.6:n.2942-54_2942-53dup | |
| ENST00000397752.8:c.2888-54_2888-53dup MANE Select | ENSP00000380860.3:n.2888-54_2888-53dup | |
| ENST00000318493.10:c.2942-54_2942-53dup | ENSP00000317272.6:n.2942-54_2942-53dup | |
| ENST00000397752.7:c.2888-54_2888-53dup | ENSP00000380860.3:n.2888-54_2888-53dup | |
| ENST00000454623.1:c.283+141_283+142dup | ENSP00000398140.1:n.283+141_283+142dup | |
| NM_000245.2:c.2888-54_2888-53dup | NP_000236.2:n.2888-54_2888-53dup | |
| NM_001127500.1:c.2942-54_2942-53dup , LRG_662t1:c.2942-54_2942-53dup | NP_001120972.1:n.2942-54_2942-53dup | |
| XM_006715990.2:c.1598-54_1598-53dup | XP_006716053.1:n.1598-54_1598-53dup | |
| XM_006715991.2:c.1598-54_1598-53dup | XP_006716054.1:n.1598-54_1598-53dup | |
| XM_011516223.1:c.2945-54_2945-53dup | XP_011514525.1:n.2945-54_2945-53dup | |
| NM_000245.3:c.2888-54_2888-53dup | NP_000236.2:n.2888-54_2888-53dup | |
| NM_001127500.2:c.2942-54_2942-53dup | NP_001120972.1:n.2942-54_2942-53dup | |
| NM_001324402.1:c.1598-54_1598-53dup | NP_001311331.1:n.1598-54_1598-53dup | |
| XR_001744772.1:n.3019-54_3019-53dup | ||
| NM_001127500.3:c.2942-54_2942-53dup | NP_001120972.1:n.2942-54_2942-53dup | |
| NM_000245.4:c.2888-54_2888-53dup MANE Select | NP_000236.2:n.2888-54_2888-53dup | |
| NM_001324402.2:c.1598-54_1598-53dup | NP_001311331.1:n.1598-54_1598-53dup |