Linked Data
gnomAD v4:
6-143485377-TGTAGA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.143485381_143485385del , CM000668.2:g.143485381_143485385del | GRCh38 |
| NC_000006.11:g.143806518_143806522del , CM000668.1:g.143806518_143806522del | GRCh37 |
| NC_000006.10:g.143848211_143848215del | NCBI36 |
| NG_008459.1:g.39601_39605del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367591.5:c.1038+133_1038+137del MANE Select | ENSP00000356563.4:n.1038+133_1038+137del | |
| ENST00000367591.4:c.1038+133_1038+137del | ENSP00000356563.4:n.1038+133_1038+137del | |
| ENST00000585848.1:n.177+133_177+137del | ||
| NM_003630.2:c.1038+133_1038+137del | NP_003621.1:n.1038+133_1038+137del | |
| NM_003630.3:c.1038+133_1038+137del MANE Select | NP_003621.1:n.1038+133_1038+137del |