Linked Data
gnomAD v4:
1-114713992-G-GTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114713992_114713993insTT , CM000663.2:g.114713992_114713993insTT | GRCh38 |
| NC_000001.10:g.115256613_115256614insTT , CM000663.1:g.115256613_115256614insTT | GRCh37 |
| NC_000001.9:g.115058136_115058137insTT | NCBI36 |
| NG_007572.1:g.7902_7903insAA , LRG_92:g.7902_7903insAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369535.5:c.112-15_112-14insAA MANE Select | ENSP00000358548.4:n.112-15_112-14insAA | |
| ENST00000369535.4:c.112-15_112-14insAA | ENSP00000358548.4:n.112-15_112-14insAA | |
| NM_002524.4:c.112-15_112-14insAA | NP_002515.1:n.112-15_112-14insAA | |
| NM_002524.5:c.112-15_112-14insAA MANE Select | NP_002515.1:n.112-15_112-14insAA |