Linked Data
gnomAD v4:
10-114044274-GA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.114044277del , CM000672.2:g.114044277del | GRCh38 |
| NC_000010.10:g.115804036del , CM000672.1:g.115804036del | GRCh37 |
| NC_000010.9:g.115794026del | NCBI36 |
| NG_012187.1:g.5231del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369295.4:c.145del MANE Select | ENSP00000358301.2:p.Ser49AlafsTer16 | |
| ENST00000369295.3:c.145del | ENSP00000358301.2:p.Ser49AlafsTer16 | |
| NM_000684.2:c.145del | NP_000675.1:p.Ser49AlafsTer16 | |
| NM_000684.3:c.145del MANE Select | NP_000675.1:p.Ser49AlafsTer16 |