Linked Data
ClinVar Variation Id:
373732
ClinVar RCV Id:
RCV000414287
dbSNP Id:
rs1057518577
MyVariant Identifiers:
chr12:g.13764656_13764657delinsAC (hg19)
chr12:g.13611722_13611723delinsAC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.13611722_13611723delinsAC , CM000674.2:g.13611722_13611723delinsAC | GRCh38 |
| NC_000012.11:g.13764656_13764657delinsAC , CM000674.1:g.13764656_13764657delinsAC | GRCh37 |
| NC_000012.10:g.13655923_13655924delinsAC | NCBI36 |
| NG_031854.1:g.373366_373367delinsGT | |
| NG_031854.2:g.375290_375291delinsGT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000609686.4:c.1780+2_1780+3delinsGT MANE Select | ENSP00000477455.1:n.1780+2_1780+3delinsGT... | |
| ENST00000609686.3:c.1780+2_1780+3delinsGT | ENSP00000477455.1:n.1780+2_1780+3delinsGT... | |
| NM_000834.3:c.1780+2_1780+3delinsGT | NP_000825.2:n.1780+2_1780+3delinsGT | |
| XM_011520628.1:c.1780+2_1780+3delinsGT | XP_011518930.1:n.1780+2_1780+3delinsGT | |
| XM_011520629.1:c.1780+2_1780+3delinsGT | XP_011518931.1:n.1780+2_1780+3delinsGT | |
| XM_011520630.1:c.1780+2_1780+3delinsGT | XP_011518932.1:n.1780+2_1780+3delinsGT | |
| XR_931372.1:n.179-3376_179-3375delinsAC | ||
| XR_931373.1:n.318+2965_318+2966delinsAC | ||
| XR_931374.1:n.117+1122_117+1123delinsAC | ||
| NM_000834.4:c.1780+2_1780+3delinsGT | NP_000825.2:n.1780+2_1780+3delinsGT | |
| XM_011520628.2:c.1780+2_1780+3delinsGT | XP_011518930.1:n.1780+2_1780+3delinsGT | |
| XM_011520629.2:c.1780+2_1780+3delinsGT | XP_011518931.1:n.1780+2_1780+3delinsGT | |
| XM_017019219.2:c.1780+2_1780+3delinsGT | XP_016874708.1:n.1780+2_1780+3delinsGT | |
| XR_001749013.1:n.599+1122_599+1123delinsAC | ||
| XR_931372.2:n.316-3376_316-3375delinsAC | ||
| XR_931373.2:n.457+2965_457+2966delinsAC | ||
| NM_000834.5:c.1780+2_1780+3delinsGT MANE Select | NP_000825.2:n.1780+2_1780+3delinsGT |