Linked Data
dbSNP Id:
rs756834762
ExAC:
20:44576406 GGGA / G
gnomAD v2:
20-44576406-GGGA-G
gnomAD v3:
20-45947767-GGGA-G
gnomAD v4:
20-45947767-GGGA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.45947775_45947777del , CM000682.2:g.45947775_45947777del | GRCh38 |
| NC_000020.10:g.44576414_44576416del , CM000682.1:g.44576414_44576416del | GRCh37 |
| NC_000020.9:g.44009821_44009823del | NCBI36 |
| NG_029772.1:g.29425_29427del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000372409.8:c.*20_*22del MANE Select | ENSP00000361486.3:n.*20_*22del | |
| ENST00000372409.7:c.*20_*22del | ENSP00000361486.3:n.*20_*22del | |
| ENST00000479348.2:c.1076_1078del | ||
| NM_022104.3:c.*20_*22del | NP_071387.1:n.*20_*22del | |
| XM_011528980.1:c.*20_*22del | XP_011527282.1:n.*20_*22del | |
| XM_011528981.1:c.*20_*22del | XP_011527283.1:n.*20_*22del | |
| XM_011528982.1:c.*20_*22del | XP_011527284.1:n.*20_*22del | |
| XM_011528980.3:c.*20_*22del | XP_011527282.1:n.*20_*22del | |
| XM_011528981.3:c.*20_*22del | XP_011527283.1:n.*20_*22del | |
| XM_017028013.2:c.*20_*22del | XP_016883502.1:n.*20_*22del | |
| XM_017028014.2:c.*20_*22del | XP_016883503.1:n.*20_*22del | |
| NM_022104.4:c.*20_*22del MANE Select | NP_071387.1:n.*20_*22del |