Linked Data
ClinVar Variation Id:
193463
dbSNP Id:
rs797044623
MyVariant Identifiers:
chr7:g.45039967_45039968delinsTT (hg19)
chr7:g.45000368_45000369delinsTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.45000368_45000369delinsTT , CM000669.2:g.45000368_45000369delinsTT | GRCh38 |
| NC_000007.13:g.45039967_45039968delinsTT , CM000669.1:g.45039967_45039968delinsTT | GRCh37 |
| NC_000007.12:g.45006492_45006493delinsTT | NCBI36 |
| NG_016295.1:g.5181_5182delinsTT , LRG_664:g.5181_5182delinsTT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000258781.11:c.30+5_30+6delinsTT MANE Select | ENSP00000258781.7:n.30+5_30+6delinsTT | |
| ENST00000648329.1:c.30+5_30+6delinsTT | ENSP00000496916.1:n.30+5_30+6delinsTT | |
| ENST00000258781.10:c.30+5_30+6delinsTT | ENSP00000258781.6:n.30+5_30+6delinsTT | |
| ENST00000461377.5:n.383+511_383+512delinsTT | ||
| ENST00000478582.5:n.175+5_175+6delinsTT | ||
| ENST00000488727.5:c.30+5_30+6delinsTT | ENSP00000417251.1:n.30+5_30+6delinsTT | |
| ENST00000541586.5:c.30+5_30+6delinsTT | ENSP00000444725.1:n.30+5_30+6delinsTT | |
| ENST00000544363.5:c.30+5_30+6delinsTT | ENSP00000438035.1:n.30+5_30+6delinsTT | |
| NM_001167934.1:c.30+5_30+6delinsTT | NP_001161406.1:n.30+5_30+6delinsTT | |
| NM_001167935.1:c.30+5_30+6delinsTT | NP_001161407.1:n.30+5_30+6delinsTT | |
| NM_031443.3:c.30+5_30+6delinsTT , LRG_664t2:c.30+5_30+6delinsTT | NP_113631.1:n.30+5_30+6delinsTT | |
| NR_030770.1:n.112+511_112+512delinsTT | ||
| XM_011515562.1:c.30+5_30+6delinsTT | XP_011513864.1:n.30+5_30+6delinsTT | |
| XM_011515564.1:c.30+5_30+6delinsTT | XP_011513866.1:n.30+5_30+6delinsTT | |
| NM_001363458.1:c.30+5_30+6delinsTT | NP_001350387.1:n.30+5_30+6delinsTT | |
| NM_001363459.1:c.30+5_30+6delinsTT | NP_001350388.1:n.30+5_30+6delinsTT | |
| XM_017012673.1:c.30+5_30+6delinsTT | XP_016868162.1:n.30+5_30+6delinsTT | |
| NM_001363458.2:c.30+5_30+6delinsTT | NP_001350387.1:n.30+5_30+6delinsTT | |
| NM_001363459.2:c.30+5_30+6delinsTT | NP_001350388.1:n.30+5_30+6delinsTT | |
| NM_031443.4:c.30+5_30+6delinsTT MANE Select | NP_113631.1:n.30+5_30+6delinsTT | |
| NR_030770.2:n.112+511_112+512delinsTT | ||
| NM_001167934.2:c.30+5_30+6delinsTT | NP_001161406.1:n.30+5_30+6delinsTT | |
| NM_001167935.2:c.30+5_30+6delinsTT | NP_001161407.1:n.30+5_30+6delinsTT |