Linked Data
dbSNP Id:
rs1224710429
gnomAD v2:
1-201046106-G-GTCA
gnomAD v4:
1-201076978-G-GTCA
MyVariant Identifiers:
chr1:g.201046106_201046107insTCA (hg19)
chr1:g.201076978_201076979insTCA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.201076979_201076980insCAT , CM000663.2:g.201076979_201076980insCAT | GRCh38 |
| NC_000001.10:g.201046107_201046108insCAT , CM000663.1:g.201046107_201046108insCAT | GRCh37 |
| NC_000001.9:g.199312730_199312731insCAT | NCBI36 |
| NG_009816.1:g.40588_40589insTGA | |
| NG_009816.2:g.40588_40589insTGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000362061.4:c.1768_1769insTGA MANE Select | ENSP00000355192.3:p.Asp589_Thr590insMet | |
| ENST00000679417.1:c.*931_*932insTGA | ENSP00000506706.1:n.*931_*932insTGA | |
| ENST00000680059.1:c.1768_1769insTGA | ENSP00000504944.1:p.Asp589_Thr590insMet | |
| ENST00000681078.1:c.1768_1769insTGA | ENSP00000506645.1:p.Asp589_Thr590insMet | |
| ENST00000681190.1:c.1768_1769insTGA | ENSP00000506428.1:p.Asp589_Thr590insMet | |
| ENST00000681874.1:c.1768_1769insTGA | ENSP00000505162.1:p.Asp589_Thr590insMet | |
| ENST00000362061.3:c.1768_1769insTGA | ENSP00000355192.3:p.Asp589_Thr590insMet | |
| ENST00000367338.7:c.1768_1769insTGA | ENSP00000356307.3:p.Asp589_Thr590insMet | |
| NM_000069.2:c.1768_1769insTGA | NP_000060.2:p.Asp589_Thr590insMet | |
| XM_005245478.2:c.1768_1769insTGA | XP_005245535.1:p.Asp589_Thr590insMet | |
| XM_005245478.3:c.1768_1769insTGA | XP_005245535.1:p.Asp589_Thr590insMet | |
| NM_000069.3:c.1768_1769insTGA MANE Select | NP_000060.2:p.Asp589_Thr590insMet |