Linked Data
dbSNP Id:
rs36071791
ExAC:
7:75933203 GGGGT / G
gnomAD v2:
7-75933203-GGGGT-G
gnomAD v3:
7-76303886-GGGGT-G
gnomAD v4:
7-76303886-GGGGT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.76303897_76303900del , CM000669.2:g.76303897_76303900del | GRCh38 |
| NC_000007.13:g.75933214_75933217del , CM000669.1:g.75933214_75933217del | GRCh37 |
| NC_000007.12:g.75771150_75771153del | NCBI36 |
| NG_008995.1:g.6340_6343del , LRG_248:g.6340_6343del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248553.7:c.428+32_428+35del MANE Select | ENSP00000248553.6:n.428+32_428+35del | |
| ENST00000674547.1:c.*19+9_*19+12del | ||
| ENST00000674638.1:c.423+32_423+35del | ENSP00000502651.1:n.423+32_423+35del | |
| ENST00000674650.1:c.365-87_365-84del | ENSP00000501628.1:n.365-87_365-84del | |
| ENST00000674965.1:c.*84+32_*84+35del | ENSP00000501765.1:n.*84+32_*84+35del | |
| ENST00000675134.1:c.407+53_407+56del | ENSP00000501831.1:n.407+53_407+56del | |
| ENST00000675226.1:c.427+32_427+35del | ENSP00000502510.1:n.427+32_427+35del | |
| ENST00000675417.1:n.693_696del | ||
| ENST00000675538.1:c.463+32_463+35del | ENSP00000502495.1:n.463+32_463+35del | |
| ENST00000675906.1:c.*13+15_*13+18del | ENSP00000502714.1:n.*13+15_*13+18del | |
| ENST00000676231.1:c.458+32_458+35del | ENSP00000502249.1:n.458+32_458+35del | |
| ENST00000248553.6:c.428+32_428+35del | ENSP00000248553.6:n.428+32_428+35del | |
| ENST00000429938.1:c.-77+32_-77+35del | ENSP00000405285.1:n.-77+32_-77+35del | |
| ENST00000447574.1:c.*592+32_*592+35del | ENSP00000414357.1:n.*592+32_*592+35del | |
| NM_001540.3:c.428+32_428+35del , LRG_248t1:c.428+32_428+35del | NP_001531.1:n.428+32_428+35del | |
| NM_001540.4:c.428+32_428+35del | NP_001531.1:n.428+32_428+35del | |
| NM_001540.5:c.428+32_428+35del MANE Select | NP_001531.1:n.428+32_428+35del |