Linked Data
gnomAD v4:
7-21816591-TAACA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21816592_21816595del , CM000669.2:g.21816592_21816595del | GRCh38 |
| NC_000007.13:g.21856210_21856213del , CM000669.1:g.21856210_21856213del | GRCh37 |
| NC_000007.12:g.21822735_21822738del | NCBI36 |
| NG_012886.2:g.278378_278381del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409508.8:c.10458_10461del MANE Select | ENSP00000475939.1:p.His3488ValfsTer7 | |
| ENST00000328843.10:c.10479_10482del | ENSP00000330671.7:p.His3495ValfsTer7 | |
| ENST00000409508.7:c.10458_10461del | ENSP00000475939.1:p.His3488ValfsTer7 | |
| ENST00000620169.4:c.10479_10482del | ENSP00000481693.1:p.His3495ValfsTer7 | |
| NM_001277115.1:c.10458_10461del | NP_001264044.1:p.His3488ValfsTer7 | |
| NM_001277115.2:c.10458_10461del MANE Select | NP_001264044.1:p.His3488ValfsTer7 |