Linked Data
gnomAD v4:
19-39243589-T-TAATTTATAAATAAATTTATAAATA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.39243603_39243604insTTTATAAATAAATTTATAAATAAA , CM000681.2:g.39243603_39243604insTTTATAAATAAATTTATAAATAAA | GRCh38 |
| NC_000019.9:g.39734243_39734244insTTTATAAATAAATTTATAAATAAA , CM000681.1:g.39734243_39734244insTTTATAAATAAATTTATAAATAAA | GRCh37 |
| NC_000019.8:g.44426083_44426084insTTTATAAATAAATTTATAAATAAA | NCBI36 |
| NG_042193.1:g.6382_6383insTATTTATAAATTTATTTATAAATT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000613087.5:c.*42_*43insTATTTATAAATTTATTTATAAATT | ENSP00000481633.1:n.*42_*43insTATTTATAAATTTATTTATAAATT | |
| ENST00000413851.3:c.*42_*43insTATTTATAAATTTATTTATAAATT MANE Select | ENSP00000409000.2:n.*42_*43insTATTTATAAATTTATTTATAAATT | |
| ENST00000613087.4:c.*42_*43insTATTTATAAATTTATTTATAAATT | ENSP00000481633.1:n.*42_*43insTATTTATAAATTTATTTATAAATT | |
| NM_172139.4:c.*42_*43insTATTTATAAATTTATTTATAAATT MANE Select | NP_742151.2:n.*42_*43insTATTTATAAATTTATTTATAAATT | |
| NM_001346937.2:c.*42_*43insTATTTATAAATTTATTTATAAATT | NP_001333866.1:n.*42_*43insTATTTATAAATTTATTTATAAATT |