Linked Data
dbSNP Id:
rs67065773
gnomAD v3:
11-118339709-TACACAC-T
gnomAD v4:
11-118339709-TACACAC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118339737_118339742del , CM000673.2:g.118339737_118339742del | GRCh38 |
| NC_000011.9:g.118210452_118210457del , CM000673.1:g.118210452_118210457del | GRCh37 |
| NC_000011.8:g.117715662_117715667del | NCBI36 |
| NG_007566.1:g.394_399del , LRG_39:g.394_399del | |
| NG_009891.1:g.8030_8035del , LRG_37:g.8030_8035del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695666.1:n.953_958del | ||
| ENST00000695667.1:n.471_476del | ||
| ENST00000300692.9:c.406+60_406+65del MANE Select | ENSP00000300692.4:n.406+60_406+65del | |
| ENST00000300692.8:c.406+60_406+65del | ENSP00000300692.4:n.406+60_406+65del | |
| ENST00000392884.2:c.275-221_275-216del | ENSP00000376622.2:n.275-221_275-216del | |
| ENST00000526561.1:n.80-221_80-216del | ||
| ENST00000529594.5:c.187+60_187+65del | ENSP00000437335.1:n.187+60_187+65del | |
| ENST00000534687.5:c.288-221_288-216del | ||
| NM_000732.4:c.406+60_406+65del , LRG_37t1:c.406+60_406+65del | NP_000723.1:n.406+60_406+65del | |
| NM_001040651.1:c.275-221_275-216del | NP_001035741.1:n.275-221_275-216del | |
| NM_001040651.2:c.275-221_275-216del | NP_001035741.1:n.275-221_275-216del | |
| NM_000732.6:c.406+60_406+65del MANE Select | NP_000723.1:n.406+60_406+65del |