Linked Data
dbSNP Id:
rs1864622928
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.14978037_14978060del , CM000674.2:g.14978037_14978060del | GRCh38 |
| NC_000012.11:g.15130971_15130994del , CM000674.1:g.15130971_15130994del | GRCh37 |
| NC_000012.10:g.15022238_15022261del | NCBI36 |
| NG_016859.1:g.10016_10039del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266395.3:c.25_48del MANE Select | ENSP00000266395.2:p.Ala9_Pro16del | |
| ENST00000266395.2:c.25_48del | ENSP00000266395.2:p.Ala9_Pro16del | |
| NM_006205.2:c.25_48del | NP_006196.1:p.Ala9_Pro16del | |
| XR_931376.1:n.175+11430_175+11453del | ||
| XM_017019431.2:c.25_48del | XP_016874920.1:p.Ala9_Pro16del | |
| XR_931376.2:n.389+11430_389+11453del | ||
| NM_006205.3:c.25_48del MANE Select | NP_006196.1:p.Ala9_Pro16del |