Linked Data
dbSNP Id:
rs568119196
gnomAD v3:
16-46698160-T-TATAGATAG
gnomAD v4:
16-46698160-T-TATAGATAG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.46698175_46698182dup , CM000678.2:g.46698175_46698182dup | GRCh38 |
| NC_000016.9:g.46732087_46732094dup , CM000678.1:g.46732087_46732094dup | GRCh37 |
| NC_000016.8:g.45289588_45289595dup | NCBI36 |
| NG_028241.1:g.13530_13537dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219097.7:c.*590_*597dup MANE Select | ENSP00000219097.2:n.*590_*597dup | |
| ENST00000219097.6:c.*590_*597dup | ENSP00000219097.2:n.*590_*597dup | |
| ENST00000566860.1:c.*590_*597dup | ENSP00000456981.1:n.*590_*597dup | |
| ENST00000567000.2:n.1353_1360dup | ||
| NM_014321.3:c.*590_*597dup | NP_055136.1:n.*590_*597dup | |
| NR_037620.1:n.1468_1475dup | ||
| NM_014321.4:c.*590_*597dup MANE Select | NP_055136.1:n.*590_*597dup | |
| NR_037620.2:n.1455_1462dup |