Linked Data
dbSNP Id:
rs1891760978
gnomAD v3:
14-81142974-ATGCAGAGCT-A
gnomAD v4:
14-81142974-ATGCAGAGCT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.81142978_81142986del , CM000676.2:g.81142978_81142986del | GRCh38 |
| NC_000014.8:g.81609322_81609330del , CM000676.1:g.81609322_81609330del | GRCh37 |
| NC_000014.7:g.80679075_80679083del | NCBI36 |
| NG_009206.1:g.192454_192462del , LRG_523:g.192454_192462del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298171.7:c.920_928del MANE Select | ENSP00000298171.2:p.Gln307_Leu309del | |
| ENST00000636454.1:n.838_846del | ||
| ENST00000298171.6:c.920_928del | ENSP00000298171.2:p.Gln307_Leu309del | |
| ENST00000541158.6:c.920_928del | ENSP00000441235.2:p.Gln307_Leu309del | |
| NM_000369.2:c.920_928del , LRG_523t1:c.920_928del | NP_000360.2:p.Gln307_Leu309del | |
| XM_005268037.3:c.920_928del | XP_005268094.1:p.Gln307_Leu309del | |
| XM_011537119.1:c.641_649del | XP_011535421.1:p.Gln214_Leu216del | |
| XR_245790.3:n.2086+22210_2086+22218del | ||
| XR_429385.2:n.853+22210_853+22218del | ||
| XR_429386.2:n.854+22210_854+22218del | ||
| XR_944075.1:n.865+22210_865+22218del | ||
| XR_944076.1:n.861+22210_861+22218del | ||
| XR_944077.1:n.865+22210_865+22218del | ||
| XR_944078.1:n.865+22210_865+22218del | ||
| XR_944079.1:n.855+22210_855+22218del | ||
| XM_005268037.4:c.920_928del | XP_005268094.1:p.Gln307_Leu309del | |
| XM_011537119.2:c.641_649del | XP_011535421.1:p.Gln214_Leu216del | |
| XR_001751021.1:n.2753+22210_2753+22218del | ||
| XR_001751022.1:n.2753+22210_2753+22218del | ||
| XR_001751023.1:n.2753+22210_2753+22218del | ||
| XR_944075.3:n.929+22210_929+22218del | ||
| NM_000369.4:c.920_928del | NP_000360.2:p.Gln307_Leu309del | |
| NM_000369.5:c.920_928del MANE Select | NP_000360.2:p.Gln307_Leu309del |