Linked Data
MyVariant Identifiers:
chr21:g.45990793_45990798del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45990793_45990798del , CM000683.2:g.45990793_45990798del | GRCh38 |
| NC_000021.8:g.47410707_47410712del , CM000683.1:g.47410707_47410712del | GRCh37 |
| NC_000021.7:g.46235135_46235140del | NCBI36 |
| NG_008674.1:g.14045_14050del , LRG_475:g.14045_14050del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361866.8:c.1023_1028del MANE Select | ENSP00000355180.3:p.Leu342_Pro343del | |
| ENST00000361866.7:c.1023_1028del | ENSP00000355180.3:p.Leu342_Pro343del | |
| ENST00000612273.1:c.1023_1028del | ENSP00000483630.1:p.Leu342_Pro343del | |
| NM_001848.2:c.1023_1028del , LRG_475t1:c.1023_1028del | NP_001839.2:p.Leu342_Pro343del | |
| NM_001848.3:c.1023_1028del MANE Select | NP_001839.2:p.Leu342_Pro343del |