Linked Data
dbSNP Id:
rs1555418725
gnomAD v2:
15-35083550-A-ACAT
gnomAD v3:
15-34791349-A-ACAT
gnomAD v4:
15-34791349-A-ACAT
MyVariant Identifiers:
chr15:g.35083550_35083551insCAT (hg19)
chr15:g.34791349_34791350insCAT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34791351_34791352insTCA , CM000677.2:g.34791351_34791352insTCA | GRCh38 |
| NC_000015.9:g.35083552_35083553insTCA , CM000677.1:g.35083552_35083553insTCA | GRCh37 |
| NC_000015.8:g.32870844_32870845insTCA | NCBI36 |
| NG_007553.1:g.9377_9378insATG , LRG_388:g.9377_9378insATG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560563.2:n.1654_1655insATG (ACTC1) | ||
| ENST00000290378.6:c.809-55_809-54insATG (ACTC1) MANE Select | ENSP00000290378.4:n.809-55_809-54insATG | |
| ENST00000647798.1:n.903-55_903-54insATG (ACTC1) | ||
| ENST00000650163.1:n.889-55_889-54insATG (ACTC1) | ||
| ENST00000290378.4:c.809-55_809-54insATG (ACTC1) | ENSP00000290378.4:n.809-55_809-54insATG | |
| ENST00000557860.1:n.499-55_499-54insATG (ACTC1) | ||
| NM_005159.4:c.809-55_809-54insATG , LRG_388t1:c.809-55_809-54insATG (ACTC1) | NP_005150.1:n.809-55_809-54insATG | |
| NR_120329.1:n.299+13920_299+13921insTCA (GJD2-DT) | ||
| NM_005159.5:c.809-55_809-54insATG (ACTC1) MANE Select | NP_005150.1:n.809-55_809-54insATG |