Linked Data
dbSNP Id:
rs773136390
gnomAD v2:
16-56918323-CCCCTGGGCACCCAGGA-C
gnomAD v3:
16-56884411-CCCCTGGGCACCCAGGA-C
gnomAD v4:
16-56884411-CCCCTGGGCACCCAGGA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56884418_56884433del , CM000678.2:g.56884418_56884433del | GRCh38 |
| NC_000016.9:g.56918330_56918345del , CM000678.1:g.56918330_56918345del | GRCh37 |
| NC_000016.8:g.55475831_55475846del | NCBI36 |
| NG_009386.1:g.24212_24227del | |
| NG_009386.2:g.24212_24227del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000563236.6:c.1825+214_1825+229del MANE Select | ENSP00000456149.2:n.1825+214_1825+229del | |
| ENST00000262502.5:c.1822+214_1822+229del | ENSP00000262502.5:n.1822+214_1822+229del | |
| ENST00000438926.6:c.1825+214_1825+229del | ENSP00000402152.2:n.1825+214_1825+229del | |
| ENST00000563236.5:c.1825+214_1825+229del | ENSP00000456149.1:n.1825+214_1825+229del | |
| ENST00000566786.5:c.1822+214_1822+229del | ENSP00000457552.1:n.1822+214_1822+229del | |
| NM_000339.2:c.1825+214_1825+229del | NP_000330.2:n.1825+214_1825+229del | |
| NM_001126107.1:c.1822+214_1822+229del | NP_001119579.1:n.1822+214_1822+229del | |
| NM_001126108.1:c.1825+214_1825+229del | NP_001119580.1:n.1825+214_1825+229del | |
| XM_005256119.1:c.1822+214_1822+229del | XP_005256176.1:n.1822+214_1822+229del | |
| XM_005256119.2:c.1822+214_1822+229del | XP_005256176.1:n.1822+214_1822+229del | |
| NM_000339.3:c.1825+214_1825+229del | NP_000330.3:n.1825+214_1825+229del | |
| NM_001126107.2:c.1822+214_1822+229del | NP_001119579.2:n.1822+214_1822+229del | |
| NM_001126108.2:c.1825+214_1825+229del MANE Select | NP_001119580.2:n.1825+214_1825+229del |