Linked Data
ClinVar Variation Id:
18160
ClinVar RCV Id:
RCV000019790
dbSNP Id:
rs61767072
gnomAD v2:
4-3769295-AGGGGGCGGGGCC-A
gnomAD v3:
4-3767568-AGGGGGCGGGGCC-A
gnomAD v4:
4-3767568-AGGGGGCGGGGCC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.3767577_3767588del , CM000666.2:g.3767577_3767588del | GRCh38 |
| NC_000004.11:g.3769304_3769315del , CM000666.1:g.3769304_3769315del | GRCh37 |
| NC_000004.10:g.3739102_3739113del | NCBI36 |
| NG_012640.1:g.6009_6020del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000330055.7:c.971_982del MANE Select | ENSP00000386069.2:p.Gly324_Ala327del | |
| ENST00000330055.6:c.971_982del | ENSP00000386069.2:p.Gly324_Ala327del | |
| ENST00000509482.1:c.971_982del | ENSP00000426268.1:p.Gly324_Ala327del | |
| NM_000683.3:c.971_982del | NP_000674.2:p.Gly324_Ala327del | |
| NM_000683.4:c.971_982del MANE Select | NP_000674.2:p.Gly324_Ala327del |