Linked Data
gnomAD v4:
19-2274986-G-GAGGCAT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.2274989_2274990insCATAGG , CM000681.2:g.2274989_2274990insCATAGG | GRCh38 |
| NC_000019.9:g.2274988_2274989insCATAGG , CM000681.1:g.2274988_2274989insCATAGG | GRCh37 |
| NC_000019.8:g.2225988_2225989insCATAGG | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342063.5:c.*693_*694insATGCCT MANE Select | ENSP00000345102.3:n.*693_*694insATGCCT | |
| ENST00000342063.4:c.*693_*694insATGCCT | ENSP00000345102.3:n.*693_*694insATGCCT | |
| ENST00000621615.1:c.146+5245_146+5246insCATAGG | ENSP00000481965.1:n.146+5245_146+5246insCATAGG | |
| NM_198532.2:c.*693_*694insATGCCT | NP_940934.1:n.*693_*694insATGCCT | |
| NM_198532.3:c.*693_*694insATGCCT MANE Select | NP_940934.1:n.*693_*694insATGCCT |