Linked Data
dbSNP Id:
rs1012276342
gnomAD v3:
9-72577876-ATATTTATT-A
gnomAD v4:
9-72577876-ATATTTATT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.72577890_72577897del , CM000671.2:g.72577890_72577897del | GRCh38 |
| NC_000009.11:g.75192806_75192813del , CM000671.1:g.75192806_75192813del | GRCh37 |
| NC_000009.10:g.74382626_74382633del | NCBI36 |
| NG_008213.1:g.61090_61097del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297784.10:c.-427-12_-427-5del MANE Select | ENSP00000297784.6:n.-427-12_-427-5del | |
| ENST00000643676.1:n.307-38478_307-38471del | ||
| ENST00000645208.2:c.-439_-432del | ENSP00000494684.1:n.-439_-432del | |
| ENST00000650689.1:n.66-12_66-5del | ||
| ENST00000651183.1:c.-528-12_-528-5del | ENSP00000498723.1:n.-528-12_-528-5del | |
| ENST00000651743.1:n.116-12_116-5del | ||
| ENST00000297784.9:c.-427-12_-427-5del | ENSP00000297784.5:n.-427-12_-427-5del | |
| ENST00000497073.1:n.103_110del | ||
| NM_138691.2:c.-427-12_-427-5del | NP_619636.2:n.-427-12_-427-5del | |
| NM_138691.3:c.-427-12_-427-5del MANE Select | NP_619636.2:n.-427-12_-427-5del |