Linked Data
ClinVar Variation Id:
315709
ClinVar RCV Id:
RCV000296187
RCV000311286
RCV000347484
RCV000351039
RCV000406995
RCV000852704
RCV001194108
RCV001859888
RCV003910188
dbSNP Id:
rs59431308
gnomAD v3:
15-34791307-TCACACACACACA-T
gnomAD v4:
15-34791307-TCACACACACACA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34791342_34791353del , CM000677.2:g.34791342_34791353del | GRCh38 |
| NC_000015.9:g.35083543_35083554del , CM000677.1:g.35083543_35083554del | GRCh37 |
| NC_000015.8:g.32870835_32870846del | NCBI36 |
| NG_007553.1:g.9408_9419del , LRG_388:g.9408_9419del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560563.2:n.1685_1696del (ACTC1) | ||
| ENST00000290378.6:c.809-24_809-13del (ACTC1) MANE Select | ENSP00000290378.4:n.809-24_809-13del | |
| ENST00000647798.1:n.903-24_903-13del (ACTC1) | ||
| ENST00000650163.1:n.889-24_889-13del (ACTC1) | ||
| ENST00000290378.4:c.809-24_809-13del (ACTC1) | ENSP00000290378.4:n.809-24_809-13del | |
| ENST00000557860.1:n.499-24_499-13del (ACTC1) | ||
| NM_005159.4:c.809-24_809-13del , LRG_388t1:c.809-24_809-13del (ACTC1) | NP_005150.1:n.809-24_809-13del | |
| NR_120329.1:n.299+13911_299+13922del (GJD2-DT) | ||
| NM_005159.5:c.809-24_809-13del (ACTC1) MANE Select | NP_005150.1:n.809-24_809-13del |