Linked Data
ClinVar Variation Id:
1325034
ClinVar RCV Id:
RCV001783711
dbSNP Id:
rs745661722
gnomAD v2:
7-66458354-TTGTG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.66993373_66993376del , CM000669.2:g.66993373_66993376del | GRCh38 |
| NC_000007.13:g.66458360_66458363del , CM000669.1:g.66458360_66458363del | GRCh37 |
| NC_000007.12:g.66095795_66095798del | NCBI36 |
| NG_007277.1:g.7231_7234del , LRG_104:g.7231_7234del | |
| NG_033069.1:g.1569_1572del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000414306.6:c.*36_*39del | ENSP00000394586.1:n.*36_*39del | |
| ENST00000697860.1:n.272_275del | ||
| ENST00000697861.1:c.258+841_258+844del | ENSP00000513460.1:n.258+841_258+844del | |
| ENST00000697862.1:c.305_308del | ENSP00000513461.1:p.Thr102AsnfsTer18 | |
| ENST00000697863.1:c.248_251del | ENSP00000513462.1:p.Thr83AsnfsTer18 | |
| ENST00000697864.1:n.1449_1452del | ||
| ENST00000697865.1:c.248_251del | ENSP00000513463.1:p.Thr83AsnfsTer18 | |
| ENST00000697866.1:c.-14_-11del | ENSP00000513464.1:n.-14_-11del | |
| ENST00000697867.1:c.145_148del | ||
| ENST00000697868.1:c.*69_*72del | ENSP00000513466.1:n.*69_*72del | |
| ENST00000697869.1:c.*40_*43del | ENSP00000513467.1:n.*40_*43del | |
| ENST00000697897.1:c.305_308del | ENSP00000513469.1:p.Thr102AsnfsTer18 | |
| ENST00000246868.7:c.305_308del MANE Select | ENSP00000246868.2:p.Thr102AsnfsTer18 | |
| ENST00000246868.6:c.305_308del | ENSP00000246868.2:p.Thr102AsnfsTer18 | |
| ENST00000414306.5:c.*36_*39del | ENSP00000394586.1:n.*36_*39del | |
| ENST00000463579.1:n.194_197del | ||
| ENST00000490953.5:n.446_449del | ||
| ENST00000617799.1:c.305_308del | ENSP00000483040.1:p.Thr102AsnfsTer18 | |
| NM_016038.2:c.305_308del , LRG_104t1:c.305_308del | NP_057122.2:p.Thr102AsnfsTer18 | |
| NM_016038.3:c.305_308del | NP_057122.2:p.Thr102AsnfsTer18 | |
| NM_016038.4:c.305_308del MANE Select | NP_057122.2:p.Thr102AsnfsTer18 |