Linked Data
dbSNP Id:
rs913256391
gnomAD v2:
1-215814201-A-AAG
gnomAD v3:
1-215640859-A-AAG
gnomAD v4:
1-215640859-A-AAG
MyVariant Identifiers:
chr1:g.215814201_215814202insAG (hg19)
chr1:g.215640859_215640860insAG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215640860_215640861insGA , CM000663.2:g.215640860_215640861insGA | GRCh38 |
| NC_000001.10:g.215814202_215814203insGA , CM000663.1:g.215814202_215814203insGA | GRCh37 |
| NC_000001.9:g.213880825_213880826insGA | NCBI36 |
| NG_009497.1:g.787537_787538insCT | |
| NG_009497.2:g.787589_787590insCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.14792-126_14792-125insCT MANE Select | ENSP00000305941.3:n.14792-126_14792-125insCT | |
| ENST00000674083.1:c.14792-126_14792-125insCT | ENSP00000501296.1:n.14792-126_14792-125insCT | |
| ENST00000307340.7:c.14792-126_14792-125insCT | ENSP00000305941.3:n.14792-126_14792-125insCT | |
| NM_206933.2:c.14792-126_14792-125insCT | NP_996816.2:n.14792-126_14792-125insCT | |
| NM_206933.3:c.14792-126_14792-125insCT | NP_996816.2:n.14792-126_14792-125insCT | |
| NM_206933.4:c.14792-126_14792-125insCT MANE Select | NP_996816.3:n.14792-126_14792-125insCT |