Linked Data
ClinVar Variation Id:
2438477
ClinVar RCV Id:
RCV003139229
gnomAD v4:
7-100626802-GTCTC-G
COSMIC:
COSM5744950
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100626807_100626810del , CM000669.2:g.100626807_100626810del | GRCh38 |
| NC_000007.13:g.100224430_100224433del , CM000669.1:g.100224430_100224433del | GRCh37 |
| NC_000007.12:g.100062366_100062369del | NCBI36 |
| NG_007989.1:g.19745_19748del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000223051.8:c.2093_2096del MANE Select | ENSP00000223051.3:p.Arg698ThrfsTer4 | |
| ENST00000223051.7:c.2093_2096del | ENSP00000223051.3:p.Arg698ThrfsTer4 | |
| ENST00000431692.5:c.*768_*771del | ENSP00000413905.1:n.*768_*771del | |
| ENST00000461176.1:n.439_442del | ||
| ENST00000462090.5:n.1129_1132del | ||
| ENST00000462107.1:c.2093_2096del | ENSP00000420525.1:p.Arg698ThrfsTer4 | |
| ENST00000465294.5:n.2013_2016del | ||
| ENST00000476304.5:n.1714_1717del | ||
| ENST00000490084.5:c.1446_1449del | ||
| NM_001206855.1:c.1580_1583del | NP_001193784.1:p.Arg527ThrfsTer4 | |
| NM_003227.3:c.2093_2096del | NP_003218.2:p.Arg698ThrfsTer4 | |
| XM_005250553.3:c.2093_2096del | XP_005250610.1:p.Arg698ThrfsTer4 | |
| XM_005250554.3:c.2093_2096del | XP_005250611.1:p.Arg698ThrfsTer4 | |
| XR_927814.1:n.433+4253_433+4256del | ||
| NM_001206855.2:c.1580_1583del | NP_001193784.1:p.Arg527ThrfsTer4 | |
| XM_005250553.4:c.2093_2096del | XP_005250610.1:p.Arg698ThrfsTer4 | |
| XM_017012573.1:c.2093_2096del | XP_016868062.1:p.Arg698ThrfsTer4 | |
| NM_003227.4:c.2093_2096del MANE Select | NP_003218.2:p.Arg698ThrfsTer4 | |
| NM_001206855.3:c.1580_1583del | NP_001193784.1:p.Arg527ThrfsTer4 |