Linked Data
dbSNP Id:
rs1572802447
gnomAD v3:
2-21038320-TTTTTTCTTTTTTTCTTTTTTC-T
gnomAD v4:
2-21038320-TTTTTTCTTTTTTTCTTTTTTC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21038334_21038354del , CM000664.2:g.21038334_21038354del | GRCh38 |
| NC_000002.11:g.21261206_21261226del , CM000664.1:g.21261206_21261226del | GRCh37 |
| NC_000002.10:g.21114711_21114731del | NCBI36 |
| NG_011793.1:g.10733_10753del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673739.2:c.384-1086_384-1066del | ENSP00000501110.2:n.384-1086_384-1066del | |
| ENST00000673882.2:c.384-1086_384-1066del | ENSP00000501253.2:n.384-1086_384-1066del | |
| ENST00000673739.1:c.252-1086_252-1066del | ENSP00000501110.1:n.252-1086_252-1066del | |
| ENST00000673882.1:c.252-1086_252-1066del | ENSP00000501253.1:n.252-1086_252-1066del | |
| ENST00000233242.5:c.384-230_384-210del MANE Select | ENSP00000233242.1:n.384-230_384-210del | |
| ENST00000399256.4:c.384-230_384-210del | ENSP00000382200.4:n.384-230_384-210del | |
| ENST00000616098.4:c.384-230_384-210del | ENSP00000477990.1:n.384-230_384-210del | |
| NM_000384.2:c.384-230_384-210del | NP_000375.2:n.384-230_384-210del | |
| XM_011532809.1:c.384-230_384-210del | XP_011531111.1:n.384-230_384-210del | |
| NM_000384.3:c.384-230_384-210del MANE Select | NP_000375.3:n.384-230_384-210del |