Linked Data
dbSNP Id:
rs775460412
ExAC:
22:43559032 CA / C
gnomAD v2:
22-43559032-CA-C
gnomAD v3:
22-43163026-CA-C
gnomAD v4:
22-43163026-CA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.43163027del , CM000684.2:g.43163027del | GRCh38 |
| NC_000022.10:g.43559033del , CM000684.1:g.43559033del | GRCh37 |
| NC_000022.9:g.41888977del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337554.8:c.*36del MANE Select | ENSP00000338004.3:n.*36del | |
| ENST00000329563.8:c.*36del | ENSP00000328973.4:n.*36del | |
| ENST00000337554.7:c.*36del | ENSP00000338004.3:n.*36del | |
| ENST00000396265.4:c.*36del | ENSP00000379563.4:n.*36del | |
| ENST00000583777.5:c.*36del | ENSP00000463495.1:n.*36del | |
| NM_000714.5:c.*36del | NP_000705.2:n.*36del | |
| NM_001256530.1:c.*36del | NP_001243459.1:n.*36del | |
| NM_001256531.1:c.*36del | NP_001243460.1:n.*36del | |
| NR_046308.1:n.455del | ||
| NM_000714.6:c.*36del MANE Select | NP_000705.2:n.*36del | |
| NR_046308.2:n.410del |