Linked Data
dbSNP Id:
rs1374636029
gnomAD v2:
9-136136992-ATAT-A
gnomAD v3:
9-133261589-ATAT-A
gnomAD v4:
9-133261589-ATAT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133261591_133261593del , CM000671.2:g.133261591_133261593del | GRCh38 |
| NC_000009.11:g.136136994_136136996del , CM000671.1:g.136136994_136136996del | GRCh37 |
| NC_000009.10:g.135126815_135126817del | NCBI36 |
| NG_006669.1:g.16058_16060del | |
| NG_006669.2:g.18623_18625del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000453660.4:n.129-218_129-216del | ||
| ENST00000647353.1:n.54-10440_54-10438del | ||
| ENST00000651471.1:n.134-218_134-216del | ||
| ENST00000679909.1:c.28+13570_28+13572del | ENSP00000506089.1:n.28+13570_28+13572del | |
| ENST00000453660.3:n.111-218_111-216del | ||
| ENST00000538324.2:c.99-218_99-216del | ENSP00000483018.1:n.99-218_99-216del | |
| ENST00000611156.4:c.99-218_99-216del | ENSP00000483265.1:n.99-218_99-216del | |
| NM_020469.2:c.99-218_99-216del | NP_065202.2:n.99-218_99-216del | |
| NM_020469.3:c.99-218_99-216del | NP_065202.2:n.99-218_99-216del |