Linked Data
dbSNP Id:
rs1339019150
gnomAD v2:
22-30092060-T-TC
gnomAD v3:
22-29696071-T-TC
gnomAD v4:
22-29696071-T-TC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.29696071_29696072insC , CM000684.2:g.29696071_29696072insC | GRCh38 |
| NC_000022.10:g.30092060_30092061insC , CM000684.1:g.30092060_30092061insC | GRCh37 |
| NC_000022.9:g.28422060_28422061insC | NCBI36 |
| NG_009057.1:g.97516_97517insC , LRG_511:g.97516_97517insC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338641.10:c.*1269_*1270insC MANE Select | ENSP00000344666.5:n.*1269_*1270insC | |
| ENST00000672461.1:c.*501+828_*501+829insC | ENSP00000500919.1:n.*501+828_*501+829insC | |
| ENST00000672896.1:c.*1329_*1330insC | ENSP00000500117.1:n.*1329_*1330insC | |
| ENST00000338641.8:c.*1269_*1270insC | ENSP00000344666.4:n.*1269_*1270insC | |
| ENST00000361452.8:c.*1329_*1330insC | ENSP00000354897.4:n.*1329_*1330insC | |
| ENST00000413209.6:c.*1269_*1270insC | ENSP00000409921.2:n.*1269_*1270insC | |
| NM_000268.3:c.*1269_*1270insC , LRG_511t1:c.*1269_*1270insC | NP_000259.1:n.*1269_*1270insC | |
| NM_016418.5:c.*1329_*1330insC , LRG_511t2:c.*1329_*1330insC | NP_057502.2:n.*1329_*1330insC | |
| NM_181828.2:c.*1329_*1330insC | NP_861966.1:n.*1329_*1330insC | |
| NM_181829.2:c.*1329_*1330insC | NP_861967.1:n.*1329_*1330insC | |
| NM_181830.2:c.*1329_*1330insC | NP_861968.1:n.*1329_*1330insC | |
| NM_181832.2:c.*1344_*1345insC | NP_861970.1:n.*1344_*1345insC | |
| NM_181833.2:c.*1269_*1270insC | NP_861971.1:n.*1269_*1270insC | |
| NR_156186.1:n.3616_3617insC | ||
| XM_017028810.1:c.*1329_*1330insC | XP_016884299.1:n.*1329_*1330insC | |
| NM_000268.4:c.*1269_*1270insC MANE Select | NP_000259.1:n.*1269_*1270insC | |
| NM_181828.3:c.*1329_*1330insC | NP_861966.1:n.*1329_*1330insC | |
| NM_181829.3:c.*1329_*1330insC | NP_861967.1:n.*1329_*1330insC | |
| NM_181830.3:c.*1329_*1330insC | NP_861968.1:n.*1329_*1330insC | |
| NM_181832.3:c.*1344_*1345insC | NP_861970.1:n.*1344_*1345insC | |
| NR_156186.2:n.3539_3540insC | ||
| NM_181833.3:c.*1269_*1270insC | NP_861971.1:n.*1269_*1270insC |