Linked Data
dbSNP Id:
rs1190435380
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.152648666_152648667insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGG , CM000669.2:g.152648666_152648667insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGG | GRCh38 |
| NC_000007.13:g.152345751_152345752insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGG , CM000669.1:g.152345751_152345752insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGG | GRCh37 |
| NC_000007.12:g.151976684_151976685insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGG | NCBI36 |
| NG_027988.1:g.32499_32500insCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCC | |
| NG_027988.2:g.32499_32500insCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698506.1:c.650_651insCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCC | ENSP00000513758.1:p.Gly217_Glu218insLeuGlyLeuProLysCysTrpAspT... | |
| ENST00000359321.2:c.818_819insCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCC MANE Select | ENSP00000352271.1:p.Gly273_Glu274insLeuGlyLeuProLysCysTrpAspT... | |
| ENST00000359321.1:c.818_819insCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCC | ENSP00000352271.1:p.Gly273_Glu274insLeuGlyLeuProLysCysTrpAspT... | |
| ENST00000495707.1:n.840_841insCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCC | ||
| NM_005431.1:c.818_819insCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCC | NP_005422.1:p.Gly273_Glu274insLeuGlyLeuProLysCysTrpAspTyrArgA... | |
| NM_005431.2:c.818_819insCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCC MANE Select | NP_005422.1:p.Gly273_Glu274insLeuGlyLeuProLysCysTrpAspTyrArgA... |