Linked Data
dbSNP Id:
rs757860644
ExAC:
11:68682259 TAA / T
gnomAD v2:
11-68682259-TAA-T
gnomAD v4:
11-68914791-TAA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68914793_68914794del , CM000673.2:g.68914793_68914794del | GRCh38 |
| NC_000011.9:g.68682261_68682262del , CM000673.1:g.68682261_68682262del | GRCh37 |
| NC_000011.8:g.68438837_68438838del | NCBI36 |
| NG_007976.1:g.15943_15944del , LRG_250:g.15943_15944del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.712-30_712-29del MANE Select | ENSP00000255078.4:n.712-30_712-29del | |
| ENST00000539224.2:c.841-30_841-29del | ||
| ENST00000674955.1:c.712-30_712-29del | ENSP00000502463.1:n.712-30_712-29del | |
| ENST00000675118.1:c.59-30_59-29del | ||
| ENST00000675615.1:c.712-30_712-29del | ENSP00000502413.1:n.712-30_712-29del | |
| ENST00000675683.1:c.99-30_99-29del | ||
| ENST00000676173.1:n.756-30_756-29del | ||
| ENST00000676228.1:c.*35-30_*35-29del | ENSP00000502375.1:n.*35-30_*35-29del | |
| ENST00000676239.1:n.26-30_26-29del | ||
| ENST00000255078.7:c.712-30_712-29del | ENSP00000255078.3:n.712-30_712-29del | |
| ENST00000539224.1:c.*35-30_*35-29del | ENSP00000440465.1:n.*35-30_*35-29del | |
| NM_002180.2:c.712-30_712-29del , LRG_250t1:c.712-30_712-29del | NP_002171.2:n.712-30_712-29del | |
| XM_005273974.2:c.-300-30_-300-29del | XP_005274031.1:n.-300-30_-300-29del | |
| XM_005273976.1:c.712-30_712-29del | XP_005274033.1:n.712-30_712-29del | |
| XR_247198.1:n.814-30_814-29del | ||
| XR_949903.1:n.814-30_814-29del | ||
| XM_005273976.2:c.712-30_712-29del | XP_005274033.1:n.712-30_712-29del | |
| XM_017017669.2:c.-300-30_-300-29del | XP_016873158.1:n.-300-30_-300-29del | |
| XM_017017670.2:c.-300-30_-300-29del | XP_016873159.1:n.-300-30_-300-29del | |
| XM_017017671.2:c.712-30_712-29del | XP_016873160.1:n.712-30_712-29del | |
| XR_949903.3:n.810-30_810-29del | ||
| NM_002180.3:c.712-30_712-29del MANE Select | NP_002171.2:n.712-30_712-29del |