Linked Data
dbSNP Id:
rs1911024622
gnomAD v3:
17-1651063-T-TTATGCCTACTGC
gnomAD v4:
17-1651063-T-TTATGCCTACTGC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.1651066_1651067insGCCTACTGCTAT , CM000679.2:g.1651066_1651067insGCCTACTGCTAT | GRCh38 |
| NC_000017.10:g.1554360_1554361insGCCTACTGCTAT , CM000679.1:g.1554360_1554361insGCCTACTGCTAT | GRCh37 |
| NC_000017.9:g.1501110_1501111insGCCTACTGCTAT | NCBI36 |
| NG_009118.1:g.38819_38820insGCAGTAGGCATA | |
| NG_033061.1:g.4035_4036insGCAGTAGGCATA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000573725.2:c.6673+44_6673+45insGCAGTAGGCATA | ENSP00000460849.2:n.6673+44_6673+45insGCAGTAGGCATA | |
| ENST00000703537.1:c.2601+44_2601+45insGCAGTAGGCATA | ||
| ENST00000703538.1:c.*6576+44_*6576+45insGCAGTAGGCATA | ENSP00000515361.1:n.*6576+44_*6576+45insGCAGTAGGCATA | |
| ENST00000703539.1:n.3167+44_3167+45insGCAGTAGGCATA | ||
| ENST00000703540.1:c.6706+44_6706+45insGCAGTAGGCATA | ENSP00000515362.1:n.6706+44_6706+45insGCAGTAGGCATA | |
| ENST00000703541.1:c.6718+44_6718+45insGCAGTAGGCATA | ENSP00000515363.1:n.6718+44_6718+45insGCAGTAGGCATA | |
| ENST00000304992.11:c.6853+44_6853+45insGCAGTAGGCATA MANE Select | ENSP00000304350.6:n.6853+44_6853+45insGCAGTAGGCATA | |
| ENST00000304992.10:c.6853+44_6853+45insGCAGTAGGCATA | ENSP00000304350.6:n.6853+44_6853+45insGCAGTAGGCATA | |
| ENST00000571958.1:c.162+44_162+45insGCAGTAGGCATA | ||
| ENST00000572621.5:c.6853+44_6853+45insGCAGTAGGCATA | ENSP00000460348.1:n.6853+44_6853+45insGCAGTAGGCATA | |
| ENST00000572723.1:n.842+44_842+45insGCAGTAGGCATA | ||
| NM_006445.3:c.6853+44_6853+45insGCAGTAGGCATA | NP_006436.3:n.6853+44_6853+45insGCAGTAGGCATA | |
| XM_024450537.1:c.6853+44_6853+45insGCAGTAGGCATA | XP_024306305.1:n.6853+44_6853+45insGCAGTAGGCATA | |
| NM_006445.4:c.6853+44_6853+45insGCAGTAGGCATA MANE Select | NP_006436.3:n.6853+44_6853+45insGCAGTAGGCATA |