Linked Data
dbSNP Id:
rs957362598
MyVariant Identifiers:
chr3:g.186561517_186561518insAAGCCTGGC (hg19)
chr3:g.186843728_186843729insAAGCCTGGC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.186843729_186843730insAGCCTGGCA , CM000665.2:g.186843729_186843730insAGCCTGGCA | GRCh38 |
| NC_000003.11:g.186561518_186561519insAGCCTGGCA , CM000665.1:g.186561518_186561519insAGCCTGGCA | GRCh37 |
| NC_000003.10:g.188044212_188044213insAGCCTGGCA | NCBI36 |
| NG_021140.1:g.6056_6057insAGCCTGGCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320741.7:c.-9+980_-9+981insAGCCTGGCA MANE Select | ENSP00000320709.2:n.-9+980_-9+981insAGCCTGGCA | |
| ENST00000320741.6:c.-9+980_-9+981insAGCCTGGCA | ENSP00000320709.2:n.-9+980_-9+981insAGCCTGGCA | |
| ENST00000444204.2:c.-60+980_-60+981insAGCCTGGCA | ENSP00000389814.2:n.-60+980_-60+981insAGCCTGGCA | |
| NM_001177800.1:c.-60+980_-60+981insAGCCTGGCA | NP_001171271.1:n.-60+980_-60+981insAGCCTGGCA | |
| NM_004797.3:c.-9+980_-9+981insAGCCTGGCA | NP_004788.1:n.-9+980_-9+981insAGCCTGGCA | |
| XM_011513324.1:c.-125+980_-125+981insAGCCTGGCA | XP_011511626.1:n.-125+980_-125+981insAGCCTGGCA | |
| NM_004797.4:c.-9+980_-9+981insAGCCTGGCA MANE Select | NP_004788.1:n.-9+980_-9+981insAGCCTGGCA | |
| NM_001177800.2:c.-60+980_-60+981insAGCCTGGCA | NP_001171271.1:n.-60+980_-60+981insAGCCTGGCA |