Linked Data
ClinVar Variation Id:
501302
dbSNP Id:
rs1553416197
gnomAD v3:
2-71669723-CA-C
gnomAD v4:
2-71669723-CA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.71669725del , CM000664.2:g.71669725del | GRCh38 |
| NC_000002.11:g.71896855del , CM000664.1:g.71896855del | GRCh37 |
| NC_000002.10:g.71750363del | NCBI36 |
| NG_008694.1:g.221103del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698057.1:c.3177del | ENSP00000513536.1:p.Val1060SerfsTer? | |
| ENST00000698058.1:c.2394del | ENSP00000513537.1:p.Val799SerfsTer? | |
| ENST00000698059.1:c.2502del | ENSP00000513538.1:p.Val835SerfsTer? | |
| ENST00000258104.8:c.5646del MANE Plus Clinical | ENSP00000258104.3:p.Val1883SerfsTer? | |
| ENST00000410020.8:c.5763del MANE Select | ENSP00000386881.3:p.Val1922SerfsTer? | |
| ENST00000258104.7:c.5646del | ENSP00000258104.3:p.Val1883SerfsTer? | |
| ENST00000394120.6:c.5649del | ENSP00000377678.2:p.Val1884SerfsTer? | |
| ENST00000409366.5:c.5712del | ENSP00000386512.1:p.Val1905SerfsTer? | |
| ENST00000409582.7:c.5760del | ENSP00000386547.3:p.Val1921SerfsTer? | |
| ENST00000409651.5:c.5742del | ENSP00000386683.1:p.Val1915SerfsTer? | |
| ENST00000409744.5:c.5670del | ENSP00000386285.1:p.Val1891SerfsTer? | |
| ENST00000409762.5:c.5697del | ENSP00000387137.1:p.Val1900SerfsTer? | |
| ENST00000410020.7:c.5763del | ENSP00000386881.3:p.Val1922SerfsTer? | |
| ENST00000410041.1:c.5700del | ENSP00000386617.1:p.Val1901SerfsTer? | |
| ENST00000413539.6:c.5739del | ENSP00000407046.2:p.Val1914SerfsTer? | |
| ENST00000429174.6:c.5709del | ENSP00000398305.2:p.Val1904SerfsTer? | |
| ENST00000479049.6:n.2531del | ||
| NM_001130455.1:c.5649del | NP_001123927.1:p.Val1884SerfsTer? | |
| NM_001130976.1:c.5604del | NP_001124448.1:p.Val1869SerfsTer? | |
| NM_001130977.1:c.5667del | NP_001124449.1:p.Val1890SerfsTer? | |
| NM_001130978.1:c.5709del | NP_001124450.1:p.Val1904SerfsTer? | |
| NM_001130979.1:c.5739del | NP_001124451.1:p.Val1914SerfsTer? | |
| NM_001130980.1:c.5697del | NP_001124452.1:p.Val1900SerfsTer? | |
| NM_001130981.1:c.5760del | NP_001124453.1:p.Val1921SerfsTer? | |
| NM_001130982.1:c.5742del | NP_001124454.1:p.Val1915SerfsTer? | |
| NM_001130983.1:c.5712del | NP_001124455.1:p.Val1905SerfsTer? | |
| NM_001130984.1:c.5670del | NP_001124456.1:p.Val1891SerfsTer? | |
| NM_001130985.1:c.5700del | NP_001124457.1:p.Val1901SerfsTer? | |
| NM_001130986.1:c.5607del | NP_001124458.1:p.Val1870SerfsTer? | |
| NM_001130987.1:c.5763del | NP_001124459.1:p.Val1922SerfsTer? | |
| NM_003494.3:c.5646del | NP_003485.1:p.Val1883SerfsTer? | |
| XM_005264584.3:c.5805del | XP_005264641.1:p.Val1936SerfsTer? | |
| XM_005264585.3:c.5802del | XP_005264642.1:p.Val1935SerfsTer? | |
| XM_005264584.4:c.5805del | XP_005264641.1:p.Val1936SerfsTer? | |
| XM_005264585.5:c.5802del | XP_005264642.1:p.Val1935SerfsTer? | |
| NM_001130987.2:c.5763del MANE Select | NP_001124459.1:p.Val1922SerfsTer? | |
| NM_001130455.2:c.5649del | NP_001123927.1:p.Val1884SerfsTer? | |
| NM_001130976.2:c.5604del | NP_001124448.1:p.Val1869SerfsTer? | |
| NM_001130977.2:c.5667del | NP_001124449.1:p.Val1890SerfsTer? | |
| NM_001130978.2:c.5709del | NP_001124450.1:p.Val1904SerfsTer? | |
| NM_001130979.2:c.5739del | NP_001124451.1:p.Val1914SerfsTer? | |
| NM_001130980.2:c.5697del | NP_001124452.1:p.Val1900SerfsTer? | |
| NM_001130981.2:c.5760del | NP_001124453.1:p.Val1921SerfsTer? | |
| NM_001130982.2:c.5742del | NP_001124454.1:p.Val1915SerfsTer? | |
| NM_001130983.2:c.5712del | NP_001124455.1:p.Val1905SerfsTer? | |
| NM_001130984.2:c.5670del | NP_001124456.1:p.Val1891SerfsTer? | |
| NM_001130985.2:c.5700del | NP_001124457.1:p.Val1901SerfsTer? | |
| NM_001130986.2:c.5607del | NP_001124458.1:p.Val1870SerfsTer? | |
| NM_003494.4:c.5646del MANE Plus Clinical | NP_003485.1:p.Val1883SerfsTer? |