Linked Data
dbSNP Id:
rs1691491586
gnomAD v3:
2-216998694-A-ACACATTGTTGT
gnomAD v4:
2-216998694-A-ACACATTGTTGT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.216998694_216998695insCACATTGTTGT , CM000664.2:g.216998694_216998695insCACATTGTTGT | GRCh38 |
| NC_000002.11:g.217863417_217863418insCACATTGTTGT , CM000664.1:g.217863417_217863418insCACATTGTTGT | GRCh37 |
| NC_000002.10:g.217571662_217571663insCACATTGTTGT | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_923881.1:n.299+4676_299+4677insCACATTGTTGT | ||
| XR_923883.1:n.294+4676_294+4677insCACATTGTTGT | ||
| XR_923885.1:n.862+4676_862+4677insCACATTGTTGT | ||
| XR_923886.1:n.300-2353_300-2352insCACATTGTTGT | ||
| XR_923887.1:n.299+4676_299+4677insCACATTGTTGT | ||
| XR_001739169.1:n.11844+4676_11844+4677insCACATTGTTGT | ||
| XR_001739170.2:n.8480+4676_8480+4677insCACATTGTTGT | ||
| XR_001739171.2:n.8347+4676_8347+4677insCACATTGTTGT |