Linked Data
dbSNP Id:
rs1593027901
gnomAD v2:
12-110029185-C-CCAACCA
MyVariant Identifiers:
chr12:g.110029185_110029186insCAACCA (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109591380_109591381insCAACCA , CM000674.2:g.109591380_109591381insCAACCA | GRCh38 |
| NC_000012.11:g.110029185_110029186insCAACCA , CM000674.1:g.110029185_110029186insCAACCA | GRCh37 |
| NC_000012.10:g.108513568_108513569insCAACCA | NCBI36 |
| NG_007702.1:g.22686_22687insCAACCA , LRG_156:g.22686_22687insCAACCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000539696.6:c.42+23_42+24insCAACCA | ENSP00000439134.1:n.42+23_42+24insCAACCA | |
| ENST00000546277.6:c.885+23_885+24insCAACCA | ENSP00000438153.2:n.885+23_885+24insCAACCA | |
| ENST00000636529.2:n.524+23_524+24insCAACCA | ||
| ENST00000697195.1:c.*649+23_*649+24insCAACCA | ENSP00000513181.1:n.*649+23_*649+24insCAACCA | |
| ENST00000697196.1:c.*58+23_*58+24insCAACCA | ENSP00000513182.1:n.*58+23_*58+24insCAACCA | |
| ENST00000697197.1:n.2914+23_2914+24insCAACCA | ||
| ENST00000228510.8:c.885+23_885+24insCAACCA MANE Select | ENSP00000228510.3:n.885+23_885+24insCAACCA | |
| ENST00000636529.1:c.510+23_510+24insCAACCA | ||
| ENST00000636996.1:c.733+23_733+24insCAACCA | ||
| ENST00000228510.7:c.885+23_885+24insCAACCA | ENSP00000228510.3:n.885+23_885+24insCAACCA | |
| ENST00000392727.7:c.729+23_729+24insCAACCA | ENSP00000376487.3:n.729+23_729+24insCAACCA | |
| ENST00000447878.6:c.*332+23_*332+24insCAACCA | ENSP00000415555.2:n.*332+23_*332+24insCAACCA | |
| ENST00000537237.5:c.*558+23_*558+24insCAACCA | ENSP00000445382.1:n.*558+23_*558+24insCAACCA | |
| ENST00000539575.4:c.885+23_885+24insCAACCA | ENSP00000443551.2:n.885+23_885+24insCAACCA | |
| ENST00000539696.5:c.42+23_42+24insCAACCA | ENSP00000439134.1:n.42+23_42+24insCAACCA | |
| ENST00000540353.1:n.3118+23_3118+24insCAACCA | ||
| ENST00000625889.2:c.729+23_729+24insCAACCA | ENSP00000486846.1:n.729+23_729+24insCAACCA | |
| ENST00000629016.2:c.*332+23_*332+24insCAACCA | ENSP00000486804.1:n.*332+23_*332+24insCAACCA | |
| NM_000431.3:c.885+23_885+24insCAACCA | NP_000422.1:n.885+23_885+24insCAACCA | |
| NM_001114185.2:c.885+23_885+24insCAACCA | NP_001107657.1:n.885+23_885+24insCAACCA | |
| NM_001301182.1:c.729+23_729+24insCAACCA | NP_001288111.1:n.729+23_729+24insCAACCA | |
| XM_011538372.1:c.885+23_885+24insCAACCA | XP_011536674.1:n.885+23_885+24insCAACCA | |
| XM_017019313.2:c.729+23_729+24insCAACCA | XP_016874802.1:n.729+23_729+24insCAACCA | |
| XM_017019314.1:c.885+23_885+24insCAACCA | XP_016874803.1:n.885+23_885+24insCAACCA | |
| XM_024448982.1:c.908_909insCAACCA | XP_024304750.1:p.Pro303_Gly304insAsnGln | |
| NM_000431.4:c.885+23_885+24insCAACCA MANE Select | NP_000422.1:n.885+23_885+24insCAACCA | |
| NM_001114185.3:c.885+23_885+24insCAACCA | NP_001107657.1:n.885+23_885+24insCAACCA | |
| NM_001301182.2:c.729+23_729+24insCAACCA | NP_001288111.1:n.729+23_729+24insCAACCA |