Linked Data
dbSNP Id:
rs754846639
ExAC:
15:48780740 C / CCTGACT
gnomAD v2:
15-48780740-C-CCTGACT
gnomAD v4:
15-48488543-C-CCTGACT
MyVariant Identifiers:
chr15:g.48780740_48780741insCTGACT (hg19)
chr15:g.48488543_48488544insCTGACT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48488543_48488544insCTGACT , CM000677.2:g.48488543_48488544insCTGACT | GRCh38 |
| NC_000015.9:g.48780740_48780741insCTGACT , CM000677.1:g.48780740_48780741insCTGACT | GRCh37 |
| NC_000015.8:g.46568032_46568033insCTGACT | NCBI36 |
| NG_008805.2:g.162245_162246insAGTCAG , LRG_778:g.162245_162246insAGTCAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.3083-51_3083-50insAGTCAG | ENSP00000453958.2:n.3083-51_3083-50insAGTCAG | |
| ENST00000674301.2:c.3083-51_3083-50insAGTCAG | ENSP00000501333.2:n.3083-51_3083-50insAGTCAG | |
| ENST00000684448.1:n.1757-51_1757-50insAGTCAG | ||
| ENST00000316623.10:c.3083-51_3083-50insAGTCAG MANE Select | ENSP00000325527.5:n.3083-51_3083-50insAGTCAG | |
| ENST00000316623.9:c.3083-51_3083-50insAGTCAG | ENSP00000325527.5:n.3083-51_3083-50insAGTCAG | |
| ENST00000537463.6:c.637-13894_637-13893insAGTCAG | ENSP00000440294.2:n.637-13894_637-13893insAGTCAG | |
| NM_000138.4:c.3083-51_3083-50insAGTCAG , LRG_778t1:c.3083-51_3083-50insAGTCAG | NP_000129.3:n.3083-51_3083-50insAGTCAG | |
| NM_000138.5:c.3083-51_3083-50insAGTCAG MANE Select | NP_000129.3:n.3083-51_3083-50insAGTCAG |