Linked Data
ClinVar Variation Id:
1996
ClinVar RCV Id:
RCV000002073
dbSNP Id:
rs796065024
gnomAD v4:
17-75835417-TCTGCACAGCGCG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75835424_75835435del , CM000679.2:g.75835424_75835435del | GRCh38 |
| NC_000017.10:g.73831505_73831516del , CM000679.1:g.73831505_73831516del | GRCh37 |
| NC_000017.9:g.71343100_71343111del | NCBI36 |
| NG_007266.1:g.14289_14300del , LRG_122:g.14289_14300del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000699510.1:c.763_774del | ENSP00000514405.1:p.Arg255_Gln258del | |
| ENST00000207549.9:c.1828_1839del MANE Select | ENSP00000207549.3:p.Arg610_Gln613del | |
| ENST00000207549.8:c.1828_1839del | ENSP00000207549.3:p.Arg610_Gln613del | |
| ENST00000412096.6:c.1828_1839del | ENSP00000388093.1:p.Arg610_Gln613del | |
| ENST00000591563.5:n.2098_2109del | ||
| NM_199242.2:c.1828_1839del , LRG_122t1:c.1828_1839del | NP_954712.1:p.Arg610_Gln613del | |
| XM_011524504.1:c.1828_1839del | XP_011522806.1:p.Arg610_Gln613del | |
| XM_011524505.1:c.1828_1839del | XP_011522807.1:p.Arg610_Gln613del | |
| XM_011524506.1:c.1825_1836del | XP_011522808.1:p.Arg609_Gln612del | |
| XM_011524507.1:c.1219_1230del | XP_011522809.1:p.Arg407_Gln410del | |
| XM_011524508.1:c.1219_1230del | XP_011522810.1:p.Arg407_Gln410del | |
| XM_011524504.2:c.1828_1839del | XP_011522806.1:p.Arg610_Gln613del | |
| XM_011524507.2:c.1219_1230del | XP_011522809.1:p.Arg407_Gln410del | |
| XM_024450640.1:c.1219_1230del | XP_024306408.1:p.Arg407_Gln410del | |
| NM_199242.3:c.1828_1839del MANE Select | NP_954712.1:p.Arg610_Gln613del |