Linked Data
gnomAD v4:
1-114709728-C-CTGACTGACTGA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114709728_114709729insTGACTGACTGA , CM000663.2:g.114709728_114709729insTGACTGACTGA | GRCh38 |
| NC_000001.10:g.115252349_115252350insTGACTGACTGA , CM000663.1:g.115252349_115252350insTGACTGACTGA | GRCh37 |
| NC_000001.9:g.115053872_115053873insTGACTGACTGA | NCBI36 |
| NG_007572.1:g.12166_12167insTCAGTCAGTCA , LRG_92:g.12166_12167insTCAGTCAGTCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369535.5:c.291-1_291insTCAGTCAGTCA MANE Select | ENSP00000358548.4:n.291-1_291insTCAGTCAGTCA | |
| ENST00000369535.4:c.291-1_291insTCAGTCAGTCA | ENSP00000358548.4:n.291-1_291insTCAGTCAGTCA | |
| NM_002524.4:c.291-1_291insTCAGTCAGTCA | NP_002515.1:n.291-1_291insTCAGTCAGTCA | |
| NM_002524.5:c.291-1_291insTCAGTCAGTCA MANE Select | NP_002515.1:n.291-1_291insTCAGTCAGTCA |