Linked Data
dbSNP Id:
rs763749922
gnomAD v4:
5-1213571-A-AGGGCTTGAGTTCAAG
MyVariant Identifiers:
chr5:g.1213686_1213687insGGGCTTGAGTTCAAG (hg19)
chr5:g.1213571_1213572insGGGCTTGAGTTCAAG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1213571_1213572insGGGCTTGAGTTCAAG , CM000667.2:g.1213571_1213572insGGGCTTGAGTTCAAG | GRCh38 |
| NC_000005.9:g.1213686_1213687insGGGCTTGAGTTCAAG , CM000667.1:g.1213686_1213687insGGGCTTGAGTTCAAG | GRCh37 |
| NC_000005.8:g.1266686_1266687insGGGCTTGAGTTCAAG | NCBI36 |
| NG_008282.1:g.16977_16978insGGGCTTGAGTTCAAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304460.11:c.772_773insGGGCTTGAGTTCAAG MANE Select | ENSP00000305302.10:p.Asn258ArgfsTer3 | |
| ENST00000304460.10:c.772_773insGGGCTTGAGTTCAAG | ENSP00000305302.10:p.Asn258ArgfsTer3 | |
| ENST00000515652.5:c.680_681insGGGCTTGAGTTCAAG | ENSP00000425701.1:p.Gln227_Arg228insGlyLeuSerSerArg | |
| NM_001003841.2:c.772_773insGGGCTTGAGTTCAAG | NP_001003841.1:p.Asn258ArgfsTer3 | |
| NM_001003841.3:c.772_773insGGGCTTGAGTTCAAG MANE Select | NP_001003841.1:p.Asn258ArgfsTer3 |