Linked Data
dbSNP Id:
rs1565987578
gnomAD v2:
12-116413181-TTATAAGACAAACA-T
MyVariant Identifiers:
chr12:g.116413182_116413194del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.115975377_115975389del , CM000674.2:g.115975377_115975389del | GRCh38 |
| NC_000012.11:g.116413182_116413194del , CM000674.1:g.116413182_116413194del | GRCh37 |
| NC_000012.10:g.114897565_114897577del | NCBI36 |
| NG_023366.1:g.306798_306810del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281928.9:c.5589-76_5589-64del MANE Select | ENSP00000281928.3:n.5589-76_5589-64del | |
| ENST00000548694.2:n.503_515del | ||
| ENST00000648379.1:n.3957-76_3957-64del | ||
| ENST00000648737.1:n.5353-76_5353-64del | ||
| ENST00000648825.1:n.3774-76_3774-64del | ||
| ENST00000648916.1:n.3600-76_3600-64del | ||
| ENST00000649607.1:c.3773-76_3773-64del | ||
| ENST00000649775.1:c.2078-76_2078-64del | ||
| ENST00000650226.1:c.5589-40_5589-28del | ENSP00000496981.1:n.5589-40_5589-28del | |
| ENST00000281928.7:c.5589-76_5589-64del | ENSP00000281928.3:n.5589-76_5589-64del | |
| ENST00000548694.1:n.503_515del | ||
| ENST00000552447.1:c.166-40_166-28del | ||
| NM_015335.4:c.5589-76_5589-64del | NP_056150.1:n.5589-76_5589-64del | |
| XM_011538080.1:c.5589-40_5589-28del | XP_011536382.1:n.5589-40_5589-28del | |
| XM_011538081.1:c.5586-40_5586-28del | XP_011536383.1:n.5586-40_5586-28del | |
| XM_011538082.1:c.5559-40_5559-28del | XP_011536384.1:n.5559-40_5559-28del | |
| XM_011538080.2:c.5589-40_5589-28del | XP_011536382.1:n.5589-40_5589-28del | |
| XM_011538081.2:c.5586-40_5586-28del | XP_011536383.1:n.5586-40_5586-28del | |
| XM_011538082.2:c.5559-40_5559-28del | XP_011536384.1:n.5559-40_5559-28del | |
| XM_017019090.1:c.5586-76_5586-64del | XP_016874579.1:n.5586-76_5586-64del | |
| NM_015335.5:c.5589-76_5589-64del MANE Select | NP_056150.1:n.5589-76_5589-64del |