Linked Data
dbSNP Id:
rs2043000244
gnomAD v3:
15-48428541-T-TTCCTTCCTTCCTCCC
gnomAD v4:
15-48428541-T-TTCCTTCCTTCCTCCC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48428547_48428548insCTTCCTCCCTCCTTC , CM000677.2:g.48428547_48428548insCTTCCTCCCTCCTTC | GRCh38 |
| NC_000015.9:g.48720744_48720745insCTTCCTCCCTCCTTC , CM000677.1:g.48720744_48720745insCTTCCTCCCTCCTTC | GRCh37 |
| NC_000015.8:g.46508036_46508037insCTTCCTCCCTCCTTC | NCBI36 |
| NG_008805.2:g.222247_222248insGGGAGGAAGGAAGGA , LRG_778:g.222247_222248insGGGAGGAAGGAAGGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.6872-71_6872-70insGGGAGGAAGGAAGGA | ENSP00000453958.2:n.6872-71_6872-70insGGGAGGAAGGAAGGA | |
| ENST00000674301.2:c.*323-71_*323-70insGGGAGGAAGGAAGGA | ENSP00000501333.2:n.*323-71_*323-70insGGGAGGAAGGAAGGA | |
| ENST00000682170.1:n.481-71_481-70insGGGAGGAAGGAAGGA | ||
| ENST00000682767.1:n.36_37insGGGAGGAAGGAAGGA | ||
| ENST00000316623.10:c.6872-71_6872-70insGGGAGGAAGGAAGGA MANE Select | ENSP00000325527.5:n.6872-71_6872-70insGGGAGGAAGGAAGGA | |
| ENST00000674301.1:c.1976-71_1976-70insGGGAGGAAGGAAGGA | ENSP00000501333.1:n.1976-71_1976-70insGGGAGGAAGGAAGGA | |
| ENST00000316623.9:c.6872-71_6872-70insGGGAGGAAGGAAGGA | ENSP00000325527.5:n.6872-71_6872-70insGGGAGGAAGGAAGGA | |
| ENST00000559133.5:c.2179-71_2179-70insGGGAGGAAGGAAGGA | ||
| ENST00000560720.1:n.159-71_159-70insGGGAGGAAGGAAGGA | ||
| NM_000138.4:c.6872-71_6872-70insGGGAGGAAGGAAGGA , LRG_778t1:c.6872-71_6872-70insGGGAGGAAGGAAGGA | NP_000129.3:n.6872-71_6872-70insGGGAGGAAGGAAGGA | |
| NM_000138.5:c.6872-71_6872-70insGGGAGGAAGGAAGGA MANE Select | NP_000129.3:n.6872-71_6872-70insGGGAGGAAGGAAGGA |