Linked Data
dbSNP Id:
rs149505602
gnomAD v2:
2-21237801-GT-G
gnomAD v3:
2-21014929-GT-G
gnomAD v4:
2-21014929-GT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21014938del , CM000664.2:g.21014938del | GRCh38 |
| NC_000002.11:g.21237810del , CM000664.1:g.21237810del | GRCh37 |
| NC_000002.10:g.21091315del | NCBI36 |
| NG_011793.1:g.34144del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673739.2:c.*3002+143del | ENSP00000501110.2:n.*3002+143del | |
| ENST00000673882.2:c.*2791+143del | ENSP00000501253.2:n.*2791+143del | |
| ENST00000673739.1:c.3410+143del | ENSP00000501110.1:n.3410+143del | |
| ENST00000673882.1:c.3199+143del | ENSP00000501253.1:n.3199+143del | |
| ENST00000233242.5:c.3696+143del MANE Select | ENSP00000233242.1:n.3696+143del | |
| ENST00000616098.4:c.3696+143del | ENSP00000477990.1:n.3696+143del | |
| NM_000384.2:c.3696+143del | NP_000375.2:n.3696+143del | |
| XM_011532809.1:c.3696+143del | XP_011531111.1:n.3696+143del | |
| NM_000384.3:c.3696+143del MANE Select | NP_000375.3:n.3696+143del |