Linked Data
dbSNP Id:
rs752597111
gnomAD v2:
1-41296444-GTC-G
gnomAD v3:
1-40830772-GTC-G
gnomAD v4:
1-40830772-GTC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40830776_40830777del , CM000663.2:g.40830776_40830777del | GRCh38 |
| NC_000001.10:g.41296448_41296449del , CM000663.1:g.41296448_41296449del | GRCh37 |
| NC_000001.9:g.41069035_41069036del | NCBI36 |
| NG_008139.1:g.51765_51766del | |
| NG_008139.2:g.51765_51766del | |
| NG_008139.3:g.51990_51991del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347132.10:c.1293-308_1293-307del MANE Select | ENSP00000262916.6:n.1293-308_1293-307del | |
| ENST00000347132.9:c.1293-308_1293-307del | ENSP00000262916.6:n.1293-308_1293-307del | |
| ENST00000443478.3:c.874-308_874-307del | ||
| ENST00000506017.1:n.612-308_612-307del | ||
| ENST00000509682.6:c.1131-308_1131-307del | ENSP00000423756.2:n.1131-308_1131-307del | |
| NM_004700.3:c.1293-308_1293-307del | NP_004691.2:n.1293-308_1293-307del | |
| NM_172163.2:c.1131-308_1131-307del | NP_751895.1:n.1131-308_1131-307del | |
| XM_011542418.1:c.1294_1295del | XP_011540720.1:p.Leu432AspfsTer11 | |
| XR_946798.1:n.1299-308_1299-307del | ||
| XR_946799.1:n.1299-308_1299-307del | ||
| XR_946800.1:n.1048-308_1048-307del | ||
| XM_017002792.1:c.276-308_276-307del | XP_016858281.1:n.276-308_276-307del | |
| NM_004700.4:c.1293-308_1293-307del MANE Select | NP_004691.2:n.1293-308_1293-307del | |
| NM_172163.3:c.1131-308_1131-307del | NP_751895.1:n.1131-308_1131-307del |