Linked Data
gnomAD v4:
21-45990484-G-GCATC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45990484_45990485insCATC , CM000683.2:g.45990484_45990485insCATC | GRCh38 |
| NC_000021.8:g.47410398_47410399insCATC , CM000683.1:g.47410398_47410399insCATC | GRCh37 |
| NC_000021.7:g.46234826_46234827insCATC | NCBI36 |
| NG_008674.1:g.13736_13737insCATC , LRG_475:g.13736_13737insCATC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361866.8:c.1002+62_1002+63insCATC MANE Select | ENSP00000355180.3:n.1002+62_1002+63insCATC | |
| ENST00000361866.7:c.1002+62_1002+63insCATC | ENSP00000355180.3:n.1002+62_1002+63insCATC | |
| ENST00000612273.1:c.1002+62_1002+63insCATC | ENSP00000483630.1:n.1002+62_1002+63insCATC | |
| NM_001848.2:c.1002+62_1002+63insCATC , LRG_475t1:c.1002+62_1002+63insCATC | NP_001839.2:n.1002+62_1002+63insCATC | |
| NM_001848.3:c.1002+62_1002+63insCATC MANE Select | NP_001839.2:n.1002+62_1002+63insCATC |