Linked Data
ClinVar Variation Id:
190168
dbSNP Id:
rs786205172
gnomAD v3:
10-49470352-T-TTAAGGTGGACCTTAAGCAGCCAGCCC
gnomAD v4:
10-49470352-T-TTAAGGTGGACCTTAAGCAGCCAGCCC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49470353_49470354insAAGGTGGACCTTAAGCAGCCAGCCCT , CM000672.2:g.49470353_49470354insAAGGTGGACCTTAAGCAGCCAGCCCT | GRCh38 |
| NC_000010.10:g.50678399_50678400insAAGGTGGACCTTAAGCAGCCAGCCCT , CM000672.1:g.50678399_50678400insAAGGTGGACCTTAAGCAGCCAGCCCT | GRCh37 |
| NC_000010.9:g.50348405_50348406insAAGGTGGACCTTAAGCAGCCAGCCCT | NCBI36 |
| NG_009442.1:g.73749_73750insGGGCTGGCTGCTTAAGGTCCACCTTA , LRG_465:g.73749_73750insGGGCTGGCTGCTTAAGGTCCACCTTA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355832.10:c.3607_3608insGGGCTGGCTGCTTAAGGTCCACCTTA MANE Select | ENSP00000348089.5:p.Lys1203ArgfsTer33 | |
| ENST00000679552.1:n.678_679insGGGCTGGCTGCTTAAGGTCCACCTTA | ||
| ENST00000679871.1:n.753_754insGGGCTGGCTGCTTAAGGTCCACCTTA | ||
| ENST00000679974.1:n.656_657insGGGCTGGCTGCTTAAGGTCCACCTTA | ||
| ENST00000681632.1:n.5010_5011insGGGCTGGCTGCTTAAGGTCCACCTTA | ||
| ENST00000681659.1:c.3448_3449insGGGCTGGCTGCTTAAGGTCCACCTTA | ENSP00000505631.1:p.Lys1150ArgfsTer33 | |
| ENST00000355832.9:c.3607_3608insGGGCTGGCTGCTTAAGGTCCACCTTA | ENSP00000348089.5:p.Lys1203ArgfsTer33 | |
| ENST00000623073.3:c.*1903_*1904insGGGCTGGCTGCTTAAGGTCCACCTTA | ENSP00000485650.1:n.*1903_*1904insGGGCTGG... | |
| ENST00000623115.3:c.1717_1718insGGGCTGGCTGCTTAAGGTCCACCTTA | ENSP00000485321.1:p.Lys573ArgfsTer33 | |
| ENST00000624341.3:c.1439_1440insGGGCTGGCTGCTTAAGGTCCACCTTA | ||
| NM_000124.3:c.3607_3608insGGGCTGGCTGCTTAAGGTCCACCTTA | NP_000115.1:p.Lys1203ArgfsTer33 | |
| XR_945953.1:n.243-1212_243-1211insAAGGTGGACCTTAAGCAGCCAGCCCT | ||
| NM_001346440.1:c.3607_3608insGGGCTGGCTGCTTAAGGTCCACCTTA | NP_001333369.1:p.Lys1203ArgfsTer33 | |
| NM_000124.4:c.3607_3608insGGGCTGGCTGCTTAAGGTCCACCTTA MANE Select | NP_000115.1:p.Lys1203ArgfsTer33 | |
| NM_001346440.2:c.3607_3608insGGGCTGGCTGCTTAAGGTCCACCTTA | NP_001333369.1:p.Lys1203ArgfsTer33 |