Linked Data
dbSNP Id:
rs2041303193
gnomAD v3:
10-100045586-A-ATATAC
gnomAD v4:
10-100045586-A-ATATAC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.100045587_100045588insATACT , CM000672.2:g.100045587_100045588insATACT | GRCh38 |
| NC_000010.10:g.101805344_101805345insATACT , CM000672.1:g.101805344_101805345insATACT | GRCh37 |
| NC_000010.9:g.101795334_101795335insATACT | NCBI36 |
| NG_012060.1:g.41299_41300insGTATA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370418.8:c.1231-3014_1231-3013insGTATA MANE Select | ENSP00000359446.3:n.1231-3014_1231-3013insGTATA | |
| ENST00000370418.7:c.1231-3014_1231-3013insGTATA | ENSP00000359446.3:n.1231-3014_1231-3013insGTATA | |
| NM_001308.2:c.1231-3014_1231-3013insGTATA | NP_001299.1:n.1231-3014_1231-3013insGTATA | |
| XM_011539299.1:c.1273-3014_1273-3013insGTATA | XP_011537601.1:n.1273-3014_1273-3013insGTATA | |
| NM_001308.3:c.1231-3014_1231-3013insGTATA MANE Select | NP_001299.1:n.1231-3014_1231-3013insGTATA |