Linked Data
gnomAD v4:
19-2274981-T-TGGCTGA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.2274984_2274985insTGAGGC , CM000681.2:g.2274984_2274985insTGAGGC | GRCh38 |
| NC_000019.9:g.2274983_2274984insTGAGGC , CM000681.1:g.2274983_2274984insTGAGGC | GRCh37 |
| NC_000019.8:g.2225983_2225984insTGAGGC | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342063.5:c.*698_*699insTCAGCC MANE Select | ENSP00000345102.3:n.*698_*699insTCAGCC | |
| ENST00000342063.4:c.*698_*699insTCAGCC | ENSP00000345102.3:n.*698_*699insTCAGCC | |
| ENST00000621615.1:c.146+5240_146+5241insTGAGGC | ENSP00000481965.1:n.146+5240_146+5241insTGAGGC | |
| NM_198532.2:c.*698_*699insTCAGCC | NP_940934.1:n.*698_*699insTCAGCC | |
| NM_198532.3:c.*698_*699insTCAGCC MANE Select | NP_940934.1:n.*698_*699insTCAGCC |