Linked Data
dbSNP Id:
rs760167340
ExAC:
7:146829636 CTT / C
gnomAD v2:
7-146829636-CTT-C
gnomAD v4:
7-147132544-CTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.147132545_147132546del , CM000669.2:g.147132545_147132546del | GRCh38 |
| NC_000007.13:g.146829637_146829638del , CM000669.1:g.146829637_146829638del | GRCh37 |
| NC_000007.12:g.146460570_146460571del | NCBI36 |
| NG_007092.2:g.1021185_1021186del | |
| NG_007092.3:g.1021545_1021546del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361727.8:c.1348+36_1348+37del MANE Select | ENSP00000354778.3:n.1348+36_1348+37del | |
| ENST00000636561.1:n.1251+36_1251+37del | ||
| ENST00000636870.1:n.1210+36_1210+37del | ||
| ENST00000637150.1:n.1277+36_1277+37del | ||
| ENST00000637694.1:n.1251+36_1251+37del | ||
| ENST00000637825.1:n.831+36_831+37del | ||
| ENST00000638117.1:n.1251+36_1251+37del | ||
| ENST00000361727.7:c.1348+36_1348+37del | ENSP00000354778.3:n.1348+36_1348+37del | |
| NM_014141.5:c.1348+36_1348+37del | NP_054860.1:n.1348+36_1348+37del | |
| XM_017011950.2:c.1348+36_1348+37del | XP_016867439.1:n.1348+36_1348+37del | |
| NM_014141.6:c.1348+36_1348+37del MANE Select | NP_054860.1:n.1348+36_1348+37del |