Linked Data
dbSNP Id:
rs1342941148
gnomAD v2:
2-21224974-AACTTG-A
gnomAD v3:
2-21002102-AACTTG-A
gnomAD v4:
2-21002102-AACTTG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21002109_21002113del , CM000664.2:g.21002109_21002113del | GRCh38 |
| NC_000002.11:g.21224981_21224985del , CM000664.1:g.21224981_21224985del | GRCh37 |
| NC_000002.10:g.21078486_21078490del | NCBI36 |
| NG_011793.1:g.46967_46971del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233242.5:c.13315_13319del MANE Select | ENSP00000233242.1:p.Gln4439Ter | |
| ENST00000616098.4:c.13313_13317del | ENSP00000477990.1:n.13313_13317del | |
| NM_000384.2:c.13315_13319del | NP_000375.2:p.Gln4439Ter | |
| XM_011532809.1:c.5870-2834_5870-2830del | XP_011531111.1:n.5870-2834_5870-2830del | |
| NM_000384.3:c.13315_13319del MANE Select | NP_000375.3:p.Gln4439Ter |