Linked Data
dbSNP Id:
rs146762370
MyVariant Identifiers:
chr1:g.15772498_15772499insGTTC (hg19)
chr1:g.15446003_15446004insGTTC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.15446003_15446004insGTTC , CM000663.2:g.15446003_15446004insGTTC | GRCh38 |
| NC_000001.10:g.15772498_15772499insGTTC , CM000663.1:g.15772498_15772499insGTTC | GRCh37 |
| NC_000001.9:g.15645085_15645086insGTTC | NCBI36 |
| NG_009253.1:g.12561_12562insGTTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375949.5:c.792+254_792+255insGTTC MANE Select | ENSP00000365116.4:n.792+254_792+255insGTTC | |
| ENST00000375943.6:c.*246+254_*246+255insGTTC | ENSP00000365110.2:n.*246+254_*246+255insGTTC | |
| ENST00000375949.4:c.792+254_792+255insGTTC | ENSP00000365116.4:n.792+254_792+255insGTTC | |
| ENST00000483406.1:n.556+254_556+255insGTTC | ||
| NM_007272.2:c.792+254_792+255insGTTC | NP_009203.2:n.792+254_792+255insGTTC | |
| XM_011540550.1:c.646+254_646+255insGTTC | XP_011538852.1:n.646+254_646+255insGTTC | |
| NM_007272.3:c.792+254_792+255insGTTC MANE Select | NP_009203.2:n.792+254_792+255insGTTC |