Linked Data
dbSNP Id:
rs1661668644
gnomAD v3:
1-215782385-AATGATAAGAGTC-A
gnomAD v4:
1-215782385-AATGATAAGAGTC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215782388_215782399del , CM000663.2:g.215782388_215782399del | GRCh38 |
| NC_000001.10:g.215955730_215955741del , CM000663.1:g.215955730_215955741del | GRCh37 |
| NC_000001.9:g.214022353_214022364del | NCBI36 |
| NG_009497.1:g.646000_646011del | |
| NG_009497.2:g.646052_646063del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.10586-201_10586-190del MANE Select | ENSP00000305941.3:n.10586-201_10586-190del | |
| ENST00000674083.1:c.10586-201_10586-190del | ENSP00000501296.1:n.10586-201_10586-190del | |
| ENST00000307340.7:c.10586-201_10586-190del | ENSP00000305941.3:n.10586-201_10586-190del | |
| NM_206933.2:c.10586-201_10586-190del | NP_996816.2:n.10586-201_10586-190del | |
| NM_206933.3:c.10586-201_10586-190del | NP_996816.2:n.10586-201_10586-190del | |
| NM_206933.4:c.10586-201_10586-190del MANE Select | NP_996816.3:n.10586-201_10586-190del |