Linked Data
ClinVar Variation Id:
2191291
ClinVar RCV Id:
RCV002616834
dbSNP Id:
rs1457607996
gnomAD v3:
7-66083153-C-CAGCTCCCAGCT
gnomAD v4:
7-66083153-C-CAGCTCCCAGCT
MyVariant Identifiers:
chr7:g.65548140_65548141insAGCTCCCAGCT (hg19)
chr7:g.66083153_66083154insAGCTCCCAGCT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.66083153_66083154insAGCTCCCAGCT , CM000669.2:g.66083153_66083154insAGCTCCCAGCT | GRCh38 |
| NC_000007.13:g.65548140_65548141insAGCTCCCAGCT , CM000669.1:g.65548140_65548141insAGCTCCCAGCT | GRCh37 |
| NC_000007.12:g.65185575_65185576insAGCTCCCAGCT | NCBI36 |
| NG_009288.1:g.12365_12366insAGCTCCCAGCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304874.14:c.425_426insAGCTCCCAGCT MANE Select | ENSP00000307188.9:p.Met143AlafsTer? | |
| ENST00000362000.10:c.230_231insAGCTCCCAGCT | ENSP00000354710.6:p.Met78AlafsTer? | |
| ENST00000380839.9:c.425_426insAGCTCCCAGCT | ENSP00000370219.4:p.Met143AlafsTer? | |
| ENST00000395331.4:c.425_426insAGCTCCCAGCT | ENSP00000378740.3:p.Met143AlafsTer? | |
| ENST00000395332.8:c.425_426insAGCTCCCAGCT | ENSP00000378741.3:p.Met143AlafsTer? | |
| ENST00000671817.1:c.425_426insAGCTCCCAGCT | ENSP00000500462.1:p.Met143AlafsTer? | |
| ENST00000672498.1:c.425_426insAGCTCCCAGCT | ENSP00000500227.1:p.Met143AlafsTer? | |
| ENST00000672586.1:n.330_331insAGCTCCCAGCT | ||
| ENST00000672676.1:n.595_596insAGCTCCCAGCT | ||
| ENST00000673149.1:n.237_238insAGCTCCCAGCT | ||
| ENST00000673350.1:n.673_674insAGCTCCCAGCT | ||
| ENST00000673518.1:c.425_426insAGCTCCCAGCT | ENSP00000499889.1:p.Met143AlafsTer? | |
| ENST00000673594.1:n.274_275insAGCTCCCAGCT | ||
| ENST00000304874.13:c.425_426insAGCTCCCAGCT | ENSP00000307188.9:p.Met143AlafsTer? | |
| ENST00000362000.9:c.230_231insAGCTCCCAGCT | ENSP00000354710.5:p.Met78AlafsTer? | |
| ENST00000380839.8:c.425_426insAGCTCCCAGCT | ENSP00000370219.4:p.Met143AlafsTer? | |
| ENST00000395331.3:c.425_426insAGCTCCCAGCT | ENSP00000378740.3:p.Met143AlafsTer? | |
| ENST00000395332.7:c.425_426insAGCTCCCAGCT | ENSP00000378741.3:p.Met143AlafsTer? | |
| ENST00000487982.5:n.491_492insAGCTCCCAGCT | ||
| ENST00000496336.1:n.806_807insAGCTCCCAGCT | ||
| NM_000048.3:c.425_426insAGCTCCCAGCT | NP_000039.2:p.Met143AlafsTer? | |
| NM_001024943.1:c.425_426insAGCTCCCAGCT | NP_001020114.1:p.Met143AlafsTer? | |
| NM_001024944.1:c.425_426insAGCTCCCAGCT | NP_001020115.1:p.Met143AlafsTer? | |
| NM_001024946.1:c.425_426insAGCTCCCAGCT | NP_001020117.1:p.Met143AlafsTer? | |
| NM_000048.4:c.425_426insAGCTCCCAGCT MANE Select | NP_000039.2:p.Met143AlafsTer? | |
| NM_001024943.2:c.425_426insAGCTCCCAGCT | NP_001020114.1:p.Met143AlafsTer? | |
| NM_001024944.2:c.425_426insAGCTCCCAGCT | NP_001020115.1:p.Met143AlafsTer? | |
| NM_001024946.2:c.425_426insAGCTCCCAGCT | NP_001020117.1:p.Met143AlafsTer? |