Linked Data
dbSNP Id:
rs1555500981
gnomAD v3:
16-56887772-TTATATATATA-T
gnomAD v4:
16-56887772-TTATATATATA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56887790_56887799del , CM000678.2:g.56887790_56887799del | GRCh38 |
| NC_000016.9:g.56921702_56921711del , CM000678.1:g.56921702_56921711del | GRCh37 |
| NC_000016.8:g.55479203_55479212del | NCBI36 |
| NG_009386.1:g.27584_27593del | |
| NG_009386.2:g.27584_27593del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000563236.6:c.2179-135_2179-126del MANE Select | ENSP00000456149.2:n.2179-135_2179-126del | |
| ENST00000262502.5:c.2176-135_2176-126del | ENSP00000262502.5:n.2176-135_2176-126del | |
| ENST00000438926.6:c.2179-135_2179-126del | ENSP00000402152.2:n.2179-135_2179-126del | |
| ENST00000563236.5:c.2179-135_2179-126del | ENSP00000456149.1:n.2179-135_2179-126del | |
| ENST00000566786.5:c.2176-135_2176-126del | ENSP00000457552.1:n.2176-135_2176-126del | |
| NM_000339.2:c.2179-135_2179-126del | NP_000330.2:n.2179-135_2179-126del | |
| NM_001126107.1:c.2176-135_2176-126del | NP_001119579.1:n.2176-135_2176-126del | |
| NM_001126108.1:c.2179-135_2179-126del | NP_001119580.1:n.2179-135_2179-126del | |
| XM_005256119.1:c.2176-135_2176-126del | XP_005256176.1:n.2176-135_2176-126del | |
| XM_005256119.2:c.2176-135_2176-126del | XP_005256176.1:n.2176-135_2176-126del | |
| NM_000339.3:c.2179-135_2179-126del | NP_000330.3:n.2179-135_2179-126del | |
| NM_001126107.2:c.2176-135_2176-126del | NP_001119579.2:n.2176-135_2176-126del | |
| NM_001126108.2:c.2179-135_2179-126del MANE Select | NP_001119580.2:n.2179-135_2179-126del |