Linked Data
dbSNP Id:
rs1849631418
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94850159_94850160del , CM000672.2:g.94850159_94850160del | GRCh38 |
| NC_000010.10:g.96609916_96609917del , CM000672.1:g.96609916_96609917del | GRCh37 |
| NC_000010.9:g.96599906_96599907del | NCBI36 |
| NG_008384.2:g.92454_92455del | |
| NG_008384.3:g.92479_92480del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371321.9:c.1291+101_1291+102del MANE Select | ENSP00000360372.3:n.1291+101_1291+102del | |
| ENST00000645461.1:n.2202+101_2202+102del | ||
| ENST00000371321.7:c.1291+101_1291+102del | ENSP00000360372.3:n.1291+101_1291+102del | |
| ENST00000464755.1:c.2054+101_2054+102del | ENSP00000483243.1:n.2054+101_2054+102del | |
| NM_000769.2:c.1291+101_1291+102del | NP_000760.1:n.1291+101_1291+102del | |
| NM_000769.4:c.1291+101_1291+102del MANE Select | NP_000760.1:n.1291+101_1291+102del |