Linked Data
gnomAD v4:
12-6022158-GCACTCCCAGGGGT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6022162_6022174del , CM000674.2:g.6022162_6022174del | GRCh38 |
| NC_000012.11:g.6131328_6131340del , CM000674.1:g.6131328_6131340del | GRCh37 |
| NC_000012.10:g.6001589_6001601del | NCBI36 |
| NG_009072.1:g.107500_107512del | |
| NG_009072.2:g.107500_107512del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261405.10:c.3539-136_3539-124del MANE Select | ENSP00000261405.5:n.3539-136_3539-124del | |
| ENST00000261405.9:c.3539-136_3539-124del | ENSP00000261405.5:n.3539-136_3539-124del | |
| ENST00000538635.5:n.421-28237_421-28225del | ||
| NM_000552.3:c.3539-136_3539-124del | NP_000543.2:n.3539-136_3539-124del | |
| NM_000552.4:c.3539-136_3539-124del | NP_000543.2:n.3539-136_3539-124del | |
| NM_000552.5:c.3539-136_3539-124del MANE Select | NP_000543.3:n.3539-136_3539-124del |