Linked Data
dbSNP Id:
rs10547971
gnomAD v3:
21-25892046-TAAAAAAA-T
gnomAD v4:
21-25892046-TAAAAAAA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.25892059_25892065del , CM000683.2:g.25892059_25892065del | GRCh38 |
| NC_000021.8:g.27264371_27264377del , CM000683.1:g.27264371_27264377del | GRCh37 |
| NC_000021.7:g.26186242_26186248del | NCBI36 |
| NG_007376.1:g.283768_283774del | |
| NG_007376.2:g.284076_284082del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000707132.1:n.2032-185_2032-179del | ||
| ENST00000707133.1:n.462-185_462-179del | ||
| ENST00000707134.1:n.731-185_731-179del | ||
| ENST00000346798.8:c.2065-185_2065-179del MANE Select | ENSP00000284981.4:n.2065-185_2065-179del | |
| ENST00000346798.7:c.2065-185_2065-179del | ENSP00000284981.4:n.2065-185_2065-179del | |
| ENST00000348990.9:c.1840-185_1840-179del | ENSP00000345463.5:n.1840-185_1840-179del | |
| ENST00000354192.7:c.1672-185_1672-179del | ENSP00000346129.3:n.1672-185_1672-179del | |
| ENST00000357903.7:c.2008-185_2008-179del | ENSP00000350578.3:n.2008-185_2008-179del | |
| ENST00000358918.7:c.2011-185_2011-179del | ENSP00000351796.3:n.2011-185_2011-179del | |
| ENST00000359726.7:c.1735-185_1735-179del | ENSP00000352760.4:n.1735-185_1735-179del | |
| ENST00000439274.6:c.1897-185_1897-179del | ENSP00000398879.2:n.1897-185_1897-179del | |
| ENST00000440126.7:c.1993-185_1993-179del | ENSP00000387483.2:n.1993-185_1993-179del | |
| ENST00000464867.1:n.412-185_412-179del | ||
| NM_000484.3:c.2065-185_2065-179del | NP_000475.1:n.2065-185_2065-179del | |
| NM_001136016.3:c.1993-185_1993-179del | NP_001129488.1:n.1993-185_1993-179del | |
| NM_001136129.2:c.1672-185_1672-179del | NP_001129601.1:n.1672-185_1672-179del | |
| NM_001136130.2:c.1897-185_1897-179del | NP_001129602.1:n.1897-185_1897-179del | |
| NM_001136131.2:c.1735-185_1735-179del | NP_001129603.1:n.1735-185_1735-179del | |
| NM_001204301.1:c.2011-185_2011-179del | NP_001191230.1:n.2011-185_2011-179del | |
| NM_001204302.1:c.1954-185_1954-179del | NP_001191231.1:n.1954-185_1954-179del | |
| NM_001204303.1:c.1786-185_1786-179del | NP_001191232.1:n.1786-185_1786-179del | |
| NM_201413.2:c.2008-185_2008-179del | NP_958816.1:n.2008-185_2008-179del | |
| NM_201414.2:c.1840-185_1840-179del | NP_958817.1:n.1840-185_1840-179del | |
| NM_000484.4:c.2065-185_2065-179del MANE Select | NP_000475.1:n.2065-185_2065-179del | |
| NM_001136129.3:c.1672-185_1672-179del | NP_001129601.1:n.1672-185_1672-179del | |
| NM_001136130.3:c.1897-185_1897-179del | NP_001129602.1:n.1897-185_1897-179del | |
| NM_001204301.2:c.2011-185_2011-179del | NP_001191230.1:n.2011-185_2011-179del | |
| NM_001204302.2:c.1954-185_1954-179del | NP_001191231.1:n.1954-185_1954-179del | |
| NM_001204303.2:c.1786-185_1786-179del | NP_001191232.1:n.1786-185_1786-179del | |
| NM_201413.3:c.2008-185_2008-179del | NP_958816.1:n.2008-185_2008-179del | |
| NM_201414.3:c.1840-185_1840-179del | NP_958817.1:n.1840-185_1840-179del | |
| NM_001136131.3:c.1735-185_1735-179del | NP_001129603.1:n.1735-185_1735-179del | |
| NM_001385253.1:c.1897-185_1897-179del | NP_001372182.1:n.1897-185_1897-179del |