Linked Data
gnomAD v4:
14-23420812-G-GGAGGCA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23420813_23420814insAGGCAG , CM000676.2:g.23420813_23420814insAGGCAG | GRCh38 |
| NC_000014.8:g.23890022_23890023insAGGCAG , CM000676.1:g.23890022_23890023insAGGCAG | GRCh37 |
| NC_000014.7:g.22959862_22959863insAGGCAG | NCBI36 |
| NG_007884.1:g.19849_19850insTGCCTC , LRG_384:g.19849_19850insTGCCTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.3336+145_3336+146insTGCCTC MANE Select | ENSP00000347507.3:n.3336+145_3336+146insTGCCTC | |
| ENST00000355349.3:c.3336+145_3336+146insTGCCTC | ENSP00000347507.3:n.3336+145_3336+146insTGCCTC | |
| NM_000257.3:c.3336+145_3336+146insTGCCTC | NP_000248.2:n.3336+145_3336+146insTGCCTC | |
| XR_245686.3:n.3444+145_3444+146insTGCCTC | ||
| XM_017021340.1:c.3336+145_3336+146insTGCCTC | XP_016876829.1:n.3336+145_3336+146insTGCCTC | |
| NM_000257.4:c.3336+145_3336+146insTGCCTC MANE Select | NP_000248.2:n.3336+145_3336+146insTGCCTC |