Linked Data
dbSNP Id:
rs1737879820
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.4860226_4860240del , CM000666.2:g.4860226_4860240del | GRCh38 |
| NC_000004.11:g.4861953_4861967del , CM000666.1:g.4861953_4861967del | GRCh37 |
| NC_000004.10:g.4912854_4912868del | NCBI36 |
| NG_008121.1:g.5562_5576del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000382723.5:c.327_341del MANE Select | ENSP00000372170.4:p.Ser110_Pro114del | |
| ENST00000382723.4:c.327_341del | ENSP00000372170.4:p.Ser110_Pro114del | |
| NM_002448.3:c.327_341del MANE Select | NP_002439.2:p.Ser110_Pro114del |