Linked Data
gnomAD v3:
6-83516575-C-CAAAAAAAAAAAAAAAAAAAAA
gnomAD v4:
6-83516575-C-CAAAAAAAAAAAAAAAAAAAAA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.83516595_83516596insAAAAAAAAAAAAAAAAAAAAA , CM000668.2:g.83516595_83516596insAAAAAAAAAAAAAAAAAAAAA | GRCh38 |
| NC_000006.11:g.84226314_84226315insAAAAAAAAAAAAAAAAAAAAA , CM000668.1:g.84226314_84226315insAAAAAAAAAAAAAAAAAAAAA | GRCh37 |
| NC_000006.10:g.84283033_84283034insAAAAAAAAAAAAAAAAAAAAA | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369700.4:c.-21+3901_-21+3902insAAAAAAAAAAAAAAAAAAAAA MANE Select | ENSP00000358714.3:n.-21+3901_-21+3902insAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000369700.3:c.-21+3901_-21+3902insAAAAAAAAAAAAAAAAAAAAA | ENSP00000358714.3:n.-21+3901_-21+3902insAAAAAAAAAAAAAAAAAAAAA... | |
| NM_001170423.1:c.-126+3901_-126+3902insAAAAAAAAAAAAAAAAAAAAA | NP_001163894.1:n.-126+3901_-126+3902insAAAAAAAAAAAAAAAAAAAAA | |
| NM_153362.2:c.-21+3901_-21+3902insAAAAAAAAAAAAAAAAAAAAA | NP_699193.2:n.-21+3901_-21+3902insAAAAAAAAAAAAAAAAAAAAA | |
| NM_153362.3:c.-21+3901_-21+3902insAAAAAAAAAAAAAAAAAAAAA MANE Select | NP_699193.2:n.-21+3901_-21+3902insAAAAAAAAAAAAAAAAAAAAA | |
| NM_001170423.2:c.-126+3901_-126+3902insAAAAAAAAAAAAAAAAAAAAA | NP_001163894.1:n.-126+3901_-126+3902insAAAAAAAAAAAAAAAAAAAAA |