Linked Data
dbSNP Id:
rs770505190
ExAC:
10:79769729 TGA / T
gnomAD v2:
10-79769729-TGA-T
gnomAD v4:
10-78009971-TGA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.78009975_78009976del , CM000672.2:g.78009975_78009976del | GRCh38 |
| NC_000010.10:g.79769733_79769734del , CM000672.1:g.79769733_79769734del | GRCh37 |
| NC_000010.9:g.79439739_79439740del | NCBI36 |
| NG_029648.1:g.24568_24569del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698728.1:n.1240_1241del | ||
| ENST00000698729.1:n.2786_2787del | ||
| ENST00000698730.1:n.2786_2787del | ||
| ENST00000698731.1:c.1520_1521del | ENSP00000513898.1:p.Leu507GlnfsTer6 | |
| ENST00000698732.1:c.*522_*523del | ENSP00000513899.1:n.*522_*523del | |
| ENST00000698733.1:c.*848_*849del | ENSP00000513900.1:n.*848_*849del | |
| ENST00000698734.1:c.1661_1662del | ENSP00000513901.1:p.Leu554GlnfsTer6 | |
| ENST00000698735.1:n.1776_1777del | ||
| ENST00000698736.1:n.1776_1777del | ||
| ENST00000698737.1:n.1776_1777del | ||
| ENST00000698738.1:n.1776_1777del | ||
| ENST00000698739.1:n.1776_1777del | ||
| ENST00000372371.8:c.1661_1662del MANE Select | ENSP00000361446.3:p.Leu554GlnfsTer6 | |
| ENST00000372371.7:c.1661_1662del | ENSP00000361446.3:p.Leu554GlnfsTer6 | |
| ENST00000473588.2:c.463_464del | ||
| NM_007055.3:c.1661_1662del | NP_008986.2:p.Leu554GlnfsTer6 | |
| NM_007055.4:c.1661_1662del MANE Select | NP_008986.2:p.Leu554GlnfsTer6 |