Linked Data
gnomAD v4:
8-118111422-TTGCCTTGC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.118111423_118111430del , CM000670.2:g.118111423_118111430del | GRCh38 |
| NC_000008.10:g.119123662_119123669del , CM000670.1:g.119123662_119123669del | GRCh37 |
| NC_000008.9:g.119192843_119192850del | NCBI36 |
| NG_007455.2:g.5390_5397del , LRG_493:g.5390_5397del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378204.7:c.-384_-377del MANE Select | ENSP00000367446.3:n.-384_-377del | |
| ENST00000378204.6:c.-384_-377del | ENSP00000367446.2:n.-384_-377del | |
| NM_000127.2:c.-384_-377del , LRG_493t1:c.-384_-377del | NP_000118.2:n.-384_-377del | |
| NM_000127.3:c.-384_-377del MANE Select | NP_000118.2:n.-384_-377del |