Linked Data
gnomAD v4:
21-45990690-TGGAGGGCA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45990691_45990698del , CM000683.2:g.45990691_45990698del | GRCh38 |
| NC_000021.8:g.47410605_47410612del , CM000683.1:g.47410605_47410612del | GRCh37 |
| NC_000021.7:g.46235033_46235040del | NCBI36 |
| NG_008674.1:g.13943_13950del , LRG_475:g.13943_13950del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361866.8:c.1003-82_1003-75del MANE Select | ENSP00000355180.3:n.1003-82_1003-75del | |
| ENST00000361866.7:c.1003-82_1003-75del | ENSP00000355180.3:n.1003-82_1003-75del | |
| ENST00000612273.1:c.1003-82_1003-75del | ENSP00000483630.1:n.1003-82_1003-75del | |
| NM_001848.2:c.1003-82_1003-75del , LRG_475t1:c.1003-82_1003-75del | NP_001839.2:n.1003-82_1003-75del | |
| NM_001848.3:c.1003-82_1003-75del MANE Select | NP_001839.2:n.1003-82_1003-75del |