Linked Data
dbSNP Id:
rs1045818469
gnomAD v2:
12-68643842-TCTC-T
gnomAD v3:
12-68250062-TCTC-T
gnomAD v4:
12-68250062-TCTC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.68250068_68250070del , CM000674.2:g.68250068_68250070del | GRCh38 |
| NC_000012.11:g.68643848_68643850del , CM000674.1:g.68643848_68643850del | GRCh37 |
| NC_000012.10:g.66930115_66930117del | NCBI36 |
| NG_060763.1:g.8540_8542del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328087.6:c.463-1189_463-1187del | ENSP00000329384.4:n.463-1189_463-1187del | |
| ENST00000538666.6:c.463-1189_463-1187del MANE Select | ENSP00000442424.1:n.463-1189_463-1187del | |
| ENST00000328087.5:c.463-1189_463-1187del | ENSP00000329384.4:n.463-1189_463-1187del | |
| ENST00000538666.5:c.463-1189_463-1187del | ENSP00000442424.1:n.463-1189_463-1187del | |
| NM_020525.4:c.463-1189_463-1187del | NP_065386.1:n.463-1189_463-1187del | |
| XR_945055.1:n.265-14590_265-14588del | ||
| NM_020525.5:c.463-1189_463-1187del MANE Select | NP_065386.1:n.463-1189_463-1187del | |
| XR_002957418.1:n.281-14590_281-14588del |