Linked Data
gnomAD v4:
2-232523814-GGGACCCCCCCCA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232523818_232523829del , CM000664.2:g.232523818_232523829del | GRCh38 |
| NC_000002.11:g.233388528_233388539del , CM000664.1:g.233388528_233388539del | GRCh37 |
| NC_000002.10:g.233096772_233096783del | NCBI36 |
| NG_008028.1:g.2607_2618del | |
| NG_031969.1:g.8356_8367del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617714.2:c.1059_1070del MANE Select | ENSP00000479745.1:p.Asp353_Gln356del | |
| ENST00000449534.6:c.1062_1073del | ENSP00000473410.1:p.Asp354_Gln357del | |
| ENST00000617714.1:c.1059_1070del | ENSP00000479745.1:p.Asp353_Gln356del | |
| NM_001195129.1:c.1059_1070del | NP_001182058.1:p.Asp353_Gln356del | |
| NM_001195129.2:c.1059_1070del MANE Select | NP_001182058.1:p.Asp353_Gln356del | |
| NM_001369848.1:c.1062_1073del | NP_001356777.1:p.Asp354_Gln357del |