Linked Data
dbSNP Id:
rs1665629056
gnomAD v3:
2-26483768-TAGGATTAGACA-T
gnomAD v4:
2-26483768-TAGGATTAGACA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26483769_26483779del , CM000664.2:g.26483769_26483779del | GRCh38 |
| NC_000002.11:g.26706637_26706647del , CM000664.1:g.26706637_26706647del | GRCh37 |
| NC_000002.10:g.26560141_26560151del | NCBI36 |
| NG_009937.1:g.79920_79930del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272371.7:c.1206-131_1206-121del MANE Select | ENSP00000272371.2:n.1206-131_1206-121del | |
| ENST00000272371.6:c.1206-131_1206-121del | ENSP00000272371.2:n.1206-131_1206-121del | |
| ENST00000403946.7:c.1206-131_1206-121del | ENSP00000385255.3:n.1206-131_1206-121del | |
| NM_001287489.1:c.1206-131_1206-121del | NP_001274418.1:n.1206-131_1206-121del | |
| NM_194248.2:c.1206-131_1206-121del | NP_919224.1:n.1206-131_1206-121del | |
| XM_005264644.2:c.1251-131_1251-121del | XP_005264701.1:n.1251-131_1251-121del | |
| XM_011533185.1:c.1251-131_1251-121del | XP_011531487.1:n.1251-131_1251-121del | |
| XM_017005338.1:c.1206-131_1206-121del | XP_016860827.1:n.1206-131_1206-121del | |
| NM_001287489.2:c.1206-131_1206-121del | NP_001274418.1:n.1206-131_1206-121del | |
| NM_194248.3:c.1206-131_1206-121del MANE Select | NP_919224.1:n.1206-131_1206-121del |