Linked Data
dbSNP Id:
rs2042110208
gnomAD v3:
9-123376849-CCTGCCG-C
gnomAD v4:
9-123376849-CCTGCCG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.123376855_123376860del , CM000671.2:g.123376855_123376860del | GRCh38 |
| NC_000009.11:g.126139134_126139139del , CM000671.1:g.126139134_126139139del | GRCh37 |
| NC_000009.10:g.125178955_125178960del | NCBI36 |
| NG_051311.1:g.27791_27796del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373631.8:c.3651_3656del MANE Select | ENSP00000362734.3:p.Leu1218_Pro1219del | |
| ENST00000373631.7:c.3651_3656del | ENSP00000362734.3:p.Leu1218_Pro1219del | |
| ENST00000460253.1:c.2655_2660del | ENSP00000435279.1:p.Leu886_Pro887del | |
| NM_173689.6:c.3651_3656del | NP_775960.4:p.Leu1218_Pro1219del | |
| NR_104603.1:n.2765_2770del | ||
| XM_005251934.1:c.2655_2660del | XP_005251991.1:p.Leu886_Pro887del | |
| XM_011518556.1:c.3624_3629del | XP_011516858.1:p.Leu1209_Pro1210del | |
| XM_011518557.1:c.3456_3461del | XP_011516859.1:p.Leu1153_Pro1154del | |
| XM_011518558.1:c.3456_3461del | XP_011516860.1:p.Leu1153_Pro1154del | |
| XM_005251934.3:c.2655_2660del | XP_005251991.1:p.Leu886_Pro887del | |
| XM_011518556.3:c.3624_3629del | XP_011516858.1:p.Leu1209_Pro1210del | |
| XM_011518557.3:c.3456_3461del | XP_011516859.1:p.Leu1153_Pro1154del | |
| XM_011518558.3:c.3456_3461del | XP_011516860.1:p.Leu1153_Pro1154del | |
| NM_173689.7:c.3651_3656del MANE Select | NP_775960.4:p.Leu1218_Pro1219del | |
| NR_104603.2:n.2765_2770del |