Linked Data
dbSNP Id:
rs72650121
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67436157_67436158del , CM000678.2:g.67436157_67436158del | GRCh38 |
| NC_000016.9:g.67470060_67470061del , CM000678.1:g.67470060_67470061del | GRCh37 |
| NC_000016.8:g.66027561_66027562del | NCBI36 |
| NG_011482.1:g.50036_50037del | |
| NG_016549.1:g.10025_10026del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000326152.6:c.664+15_664+16del MANE Select | ENSP00000316786.5:n.664+15_664+16del | |
| ENST00000326152.5:c.664+15_664+16del | ENSP00000316786.5:n.664+15_664+16del | |
| ENST00000567684.2:n.527+15_527+16del | ||
| NM_000196.3:c.664+15_664+16del | NP_000187.3:n.664+15_664+16del | |
| NM_000196.4:c.664+15_664+16del MANE Select | NP_000187.3:n.664+15_664+16del |