Linked Data
dbSNP Id:
rs754885011
ExAC:
22:50659697 C / CA
gnomAD v2:
22-50659697-C-CA
gnomAD v4:
22-50221268-C-CA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50221268_50221269insA , CM000684.2:g.50221268_50221269insA | GRCh38 |
| NC_000022.10:g.50659697_50659698insA , CM000684.1:g.50659697_50659698insA | GRCh37 |
| NC_000022.9:g.49001824_49001825insA | NCBI36 |
| NG_032160.1:g.28703_28704insT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248846.10:c.3090_3091insT MANE Select | ENSP00000248846.5:p.Gly1031TrpfsTer12 | |
| ENST00000248846.9:c.3090_3091insT | ENSP00000248846.5:p.Gly1031TrpfsTer12 | |
| ENST00000439308.6:c.3090_3091insT | ENSP00000397387.2:p.Gly1031TrpfsTer12 | |
| ENST00000491449.5:n.1397_1398insT | ||
| ENST00000498611.5:n.3617+6_3617+7insT | ||
| NM_020461.3:c.3090_3091insT | NP_065194.2:p.Gly1031TrpfsTer12 | |
| XR_938347.1:n.3655_3656insT | ||
| XR_938348.1:n.3049+759_3049+760insT | ||
| XR_001755343.2:n.3659_3660insT | ||
| XR_001755344.2:n.3659_3660insT | ||
| XR_002958720.1:n.3053+759_3053+760insT | ||
| XR_938347.2:n.3659_3660insT | ||
| NM_020461.4:c.3090_3091insT MANE Select | NP_065194.3:p.Gly1031TrpfsTer12 |