Linked Data
dbSNP Id:
rs1194103257
gnomAD v3:
18-77268567-C-CCTT
gnomAD v4:
18-77268567-C-CCTT
MyVariant Identifiers:
chr18:g.74980523_74980524insCTT (hg19)
chr18:g.77268567_77268568insCTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.77268569_77268570insTCT , CM000680.2:g.77268569_77268570insTCT | GRCh38 |
| NC_000018.9:g.74980525_74980526insTCT , CM000680.1:g.74980525_74980526insTCT | GRCh37 |
| NC_000018.8:g.73109513_73109514insTCT | NCBI36 |
| NG_009223.1:g.23518_23519insTCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299727.5:c.733-16_733-15insTCT MANE Select | ENSP00000299727.3:n.733-16_733-15insTCT | |
| ENST00000299727.4:c.733-16_733-15insTCT | ENSP00000299727.3:n.733-16_733-15insTCT | |
| NM_001480.3:c.733-16_733-15insTCT | NP_001471.2:n.733-16_733-15insTCT | |
| NM_001480.4:c.733-16_733-15insTCT MANE Select | NP_001471.2:n.733-16_733-15insTCT |