Linked Data
dbSNP Id:
rs1553350710
MyVariant Identifiers:
chr2:g.39939181_39939182insGTGTGTGTGTGT (hg19)
chr2:g.39712041_39712042insGTGTGTGTGTGT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.39712041_39712042insGTGTGTGTGTGT , CM000664.2:g.39712041_39712042insGTGTGTGTGTGT | GRCh38 |
| NC_000002.11:g.39939181_39939182insGTGTGTGTGTGT , CM000664.1:g.39939181_39939182insGTGTGTGTGTGT | GRCh37 |
| NC_000002.10:g.39792685_39792686insGTGTGTGTGTGT | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281961.3:c.652+4855_652+4856insGTGTGTGTGTGT MANE Select | ENSP00000281961.2:n.652+4855_652+4856insGTGTGTGTGTGT | |
| ENST00000281961.2:c.652+4855_652+4856insGTGTGTGTGTGT | ENSP00000281961.2:n.652+4855_652+4856insGTGTGTGTGTGT | |
| ENST00000413011.5:n.371+4855_371+4856insGTGTGTGTGTGT | ||
| ENST00000482239.5:n.395+4855_395+4856insGTGTGTGTGTGT | ||
| ENST00000495402.1:n.431+4855_431+4856insGTGTGTGTGTGT | ||
| ENST00000618232.1:c.*42-4969_*42-4968insGTGTGTGTGTGT | ENSP00000477622.1:n.*42-4969_*42-4968insGTGTGTGTGTGT | |
| NM_001167959.1:c.106+4855_106+4856insGTGTGTGTGTGT | NP_001161431.1:n.106+4855_106+4856insGTGTGTGTGTGT | |
| NM_152390.2:c.652+4855_652+4856insGTGTGTGTGTGT | NP_689603.2:n.652+4855_652+4856insGTGTGTGTGTGT | |
| XM_005264144.1:c.515-4969_515-4968insGTGTGTGTGTGT | XP_005264201.1:n.515-4969_515-4968insGTGTGTGTGTGT | |
| XM_005264145.1:c.401-4969_401-4968insGTGTGTGTGTGT | XP_005264202.1:n.401-4969_401-4968insGTGTGTGTGTGT | |
| XM_017003369.1:c.*499_*500insGTGTGTGTGTGT | XP_016858858.1:n.*499_*500insGTGTGTGTGTGT | |
| XM_017003370.2:c.106+4855_106+4856insGTGTGTGTGTGT | XP_016858859.1:n.106+4855_106+4856insGTGTGTGTGTGT | |
| XM_017003371.1:c.106+4855_106+4856insGTGTGTGTGTGT | XP_016858860.1:n.106+4855_106+4856insGTGTGTGTGTGT | |
| XM_024452702.1:c.401-23188_401-23187insGTGTGTGTGTGT | XP_024308470.1:n.401-23188_401-23187insGTGTGTGTGTGT | |
| XM_024452703.1:c.106+4855_106+4856insGTGTGTGTGTGT | XP_024308471.1:n.106+4855_106+4856insGTGTGTGTGTGT | |
| XM_024452704.1:c.106+4855_106+4856insGTGTGTGTGTGT | XP_024308472.1:n.106+4855_106+4856insGTGTGTGTGTGT | |
| XM_024452705.1:c.106+4855_106+4856insGTGTGTGTGTGT | XP_024308473.1:n.106+4855_106+4856insGTGTGTGTGTGT | |
| NM_152390.3:c.652+4855_652+4856insGTGTGTGTGTGT MANE Select | NP_689603.2:n.652+4855_652+4856insGTGTGTGTGTGT | |
| NM_001167959.2:c.106+4855_106+4856insGTGTGTGTGTGT | NP_001161431.1:n.106+4855_106+4856insGTGTGTGTGTGT |