Linked Data
dbSNP Id:
rs1304309995
gnomAD v2:
10-50669636-A-ATG
gnomAD v3:
10-49461590-A-ATG
gnomAD v4:
10-49461590-A-ATG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49461590_49461591insTG , CM000672.2:g.49461590_49461591insTG | GRCh38 |
| NC_000010.10:g.50669636_50669637insTG , CM000672.1:g.50669636_50669637insTG | GRCh37 |
| NC_000010.9:g.50339642_50339643insTG | NCBI36 |
| NG_009442.1:g.82511_82512insCA , LRG_465:g.82511_82512insCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.3779-35_3779-34insCA MANE Select | ENSP00000348089.5:n.3779-35_3779-34insCA | |
| ENST00000679552.1:n.850-35_850-34insCA | ||
| ENST00000679871.1:n.925-35_925-34insCA | ||
| ENST00000679974.1:n.828-35_828-34insCA | ||
| ENST00000681632.1:n.5182-35_5182-34insCA | ||
| ENST00000681659.1:c.3620-35_3620-34insCA | ENSP00000505631.1:n.3620-35_3620-34insCA | |
| ENST00000355832.9:c.3779-35_3779-34insCA | ENSP00000348089.5:n.3779-35_3779-34insCA | |
| ENST00000465653.1:n.101-35_101-34insCA | ||
| ENST00000623073.3:c.*2075-35_*2075-34insCA | ENSP00000485650.1:n.*2075-35_*2075-34insCA | |
| ENST00000623115.3:c.1889-35_1889-34insCA | ENSP00000485321.1:n.1889-35_1889-34insCA | |
| ENST00000624341.3:c.1611-35_1611-34insCA | ||
| NM_000124.3:c.3779-35_3779-34insCA | NP_000115.1:n.3779-35_3779-34insCA | |
| XR_945953.1:n.243-9975_243-9974insTG | ||
| NM_001346440.1:c.3779-35_3779-34insCA | NP_001333369.1:n.3779-35_3779-34insCA | |
| NM_000124.4:c.3779-35_3779-34insCA MANE Select | NP_000115.1:n.3779-35_3779-34insCA | |
| NM_001346440.2:c.3779-35_3779-34insCA | NP_001333369.1:n.3779-35_3779-34insCA |