Linked Data
gnomAD v4:
10-114044129-CGGCATG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.114044133_114044138del , CM000672.2:g.114044133_114044138del | GRCh38 |
| NC_000010.10:g.115803892_115803897del , CM000672.1:g.115803892_115803897del | GRCh37 |
| NC_000010.9:g.115793882_115793887del | NCBI36 |
| NG_012187.1:g.5087_5092del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369295.4:c.1_6del MANE Select | ENSP00000358301.2:p.Met1_Gly2del | |
| ENST00000369295.3:c.1_6del | ENSP00000358301.2:p.Met1_Gly2del | |
| NM_000684.2:c.1_6del | NP_000675.1:p.Met1_Gly2del | |
| NM_000684.3:c.1_6del MANE Select | NP_000675.1:p.Met1_Gly2del |