Linked Data
dbSNP Id:
rs1847077204
gnomAD v3:
10-88990159-ATGGCGCAACATCTGTACTTTTTCAT-A
gnomAD v4:
10-88990159-ATGGCGCAACATCTGTACTTTTTCAT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.88990160_88990184del , CM000672.2:g.88990160_88990184del | GRCh38 |
| NC_000010.10:g.90749917_90749941del , CM000672.1:g.90749917_90749941del | GRCh37 |
| NC_000010.9:g.90739897_90739921del | NCBI36 |
| NG_009089.2:g.4630_4654del , LRG_134:g.4630_4654del | |
| NG_011541.1:g.6207_6231del , LRG_781:g.6207_6231del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000415557.2:c.-24+755_-24+779del (ACTA2) | ENSP00000396730.2:n.-24+755_-24+779del | |
| ENST00000458159.6:c.-24+838_-24+862del (ACTA2) | ENSP00000398239.2:n.-24+838_-24+862del | |
| ENST00000696723.1:n.3663+581_3663+605del (FAS) | ||
| ENST00000696992.1:n.1147+581_1147+605del (FAS) | ||
| ENST00000688239.1:n.372-46_372-22del (FAS) | ||
| ENST00000690268.1:c.111+581_111+605del (FAS) | ENSP00000509810.1:n.111+581_111+605del | |
| ENST00000415557.1:c.-24+755_-24+779del (ACTA2) | ENSP00000396730.1:n.-24+755_-24+779del | |
| ENST00000458159.5:c.-24+838_-24+862del (ACTA2) | ENSP00000398239.1:n.-24+838_-24+862del | |
| ENST00000458208.5:c.-24+755_-24+779del (ACTA2) | ENSP00000402373.1:n.-24+755_-24+779del | |
| NM_001141945.1:c.-24+755_-24+779del , LRG_781t2:c.-24+755_-24+779del (ACTA2) | NP_001135417.1:n.-24+755_-24+779del | |
| XM_006717819.2:c.111+581_111+605del (FAS) | XP_006717882.1:n.111+581_111+605del | |
| XM_011539764.1:c.192+581_192+605del (FAS) | XP_011538066.1:n.192+581_192+605del | |
| XM_011539765.1:c.192+581_192+605del (FAS) | XP_011538067.1:n.192+581_192+605del | |
| XM_011539766.1:c.111+581_111+605del (FAS) | XP_011538068.1:n.111+581_111+605del | |
| XM_011540016.1:c.-24+838_-24+862del (ACTA2) | XP_011538318.1:n.-24+838_-24+862del | |
| XR_945732.1:n.207+581_207+605del (FAS) | ||
| XR_945733.1:n.207+581_207+605del (FAS) | ||
| NM_001141945.2:c.-24+755_-24+779del (ACTA2) | NP_001135417.1:n.-24+755_-24+779del | |
| NM_001320855.1:c.-24+838_-24+862del (ACTA2) | NP_001307784.1:n.-24+838_-24+862del | |
| XM_006717819.3:c.111+581_111+605del (FAS) | XP_006717882.1:n.111+581_111+605del | |
| XM_011539764.2:c.192+581_192+605del (FAS) | XP_011538066.1:n.192+581_192+605del | |
| XM_011539765.2:c.192+581_192+605del (FAS) | XP_011538067.1:n.192+581_192+605del | |
| XM_011539766.2:c.111+581_111+605del (FAS) | XP_011538068.1:n.111+581_111+605del | |
| XR_945732.3:n.207+581_207+605del (FAS) | ||
| XR_945733.2:n.207+581_207+605del (FAS) |