Linked Data
dbSNP Id:
rs1555418994
MyVariant Identifiers:
chr15:g.35086857_35086858insGGGGA (hg19)
chr15:g.34794656_34794657insGGGGA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34794660_34794661insAGGGG , CM000677.2:g.34794660_34794661insAGGGG | GRCh38 |
| NC_000015.9:g.35086861_35086862insAGGGG , CM000677.1:g.35086861_35086862insAGGGG | GRCh37 |
| NC_000015.8:g.32874153_32874154insAGGGG | NCBI36 |
| NG_007553.1:g.6070_6071insTCCCC , LRG_388:g.6070_6071insTCCCC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000560563.2:n.235+23_235+24insTCCCC (ACTC1) | ||
| ENST00000290378.6:c.129+23_129+24insTCCCC (ACTC1) MANE Select | ENSP00000290378.4:n.129+23_129+24insTCCCC... | |
| ENST00000290378.4:c.129+23_129+24insTCCCC (ACTC1) | ENSP00000290378.4:n.129+23_129+24insTCCCC... | |
| NM_005159.4:c.129+23_129+24insTCCCC , LRG_388t1:c.129+23_129+24insTCCCC (ACTC1) | NP_005150.1:n.129+23_129+24insTCCCC | |
| NR_120329.1:n.300-15836_300-15835insAGGGG (GJD2-DT) | ||
| NM_005159.5:c.129+23_129+24insTCCCC (ACTC1) MANE Select | NP_005150.1:n.129+23_129+24insTCCCC |