Linked Data
dbSNP Id:
rs1484310719
gnomAD v2:
11-17634138-ATTC-A
gnomAD v3:
11-17612591-ATTC-A
gnomAD v4:
11-17612591-ATTC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17612597_17612599del , CM000673.2:g.17612597_17612599del | GRCh38 |
| NC_000011.9:g.17634144_17634146del , CM000673.1:g.17634144_17634146del | GRCh37 |
| NC_000011.8:g.17590720_17590722del | NCBI36 |
| NG_033191.1:g.70225_70227del | |
| NG_033191.2:g.70225_70227del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399391.7:c.6329-23_6329-21del | ENSP00000382323.2:n.6329-23_6329-21del | |
| ENST00000399397.6:c.6293-23_6293-21del MANE Select | ENSP00000382329.2:n.6293-23_6293-21del | |
| ENST00000342528.2:c.3347-23_3347-21del | ENSP00000341666.2:n.3347-23_3347-21del | |
| ENST00000399391.6:c.6329-23_6329-21del | ENSP00000382323.2:n.6329-23_6329-21del | |
| ENST00000399397.5:c.6293-23_6293-21del | ENSP00000382329.2:n.6293-23_6293-21del | |
| NM_001277269.1:c.6329-23_6329-21del | NP_001264198.1:n.6329-23_6329-21del | |
| NM_001292063.1:c.6293-23_6293-21del | NP_001278992.1:n.6293-23_6293-21del | |
| NM_001277269.2:c.6329-23_6329-21del | NP_001264198.1:n.6329-23_6329-21del | |
| NM_001292063.2:c.6293-23_6293-21del MANE Select | NP_001278992.1:n.6293-23_6293-21del |