Linked Data
dbSNP Id:
rs1254964768
gnomAD v2:
6-152272207-GAAGTT-G
gnomAD v3:
6-151951072-GAAGTT-G
gnomAD v4:
6-151951072-GAAGTT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.151951075_151951079del , CM000668.2:g.151951075_151951079del | GRCh38 |
| NC_000006.11:g.152272210_152272214del , CM000668.1:g.152272210_152272214del | GRCh37 |
| NC_000006.10:g.152313903_152313907del | NCBI36 |
| NG_008493.1:g.265580_265584del | |
| NG_008493.2:g.299385_299389del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000206249.8:c.1096+6567_1096+6571del MANE Select | ENSP00000206249.3:n.1096+6567_1096+6571del | |
| ENST00000638569.1:c.42+6826_42+6830del | ENSP00000491412.1:n.42+6826_42+6830del | |
| ENST00000641399.1:n.424+6567_424+6571del | ||
| ENST00000206249.7:c.1096+6567_1096+6571del | ENSP00000206249.3:n.1096+6567_1096+6571del | |
| ENST00000338799.9:c.1096+6567_1096+6571del | ENSP00000342630.5:n.1096+6567_1096+6571del | |
| ENST00000406599.5:c.453-109916_453-109912del | ENSP00000384064.1:n.453-109916_453-109912del | |
| ENST00000415488.1:c.116-60581_116-60577del | ENSP00000401995.1:n.116-60581_116-60577del | |
| ENST00000427531.6:c.577+6567_577+6571del | ENSP00000394721.2:n.577+6567_577+6571del | |
| ENST00000440973.5:c.1096+6567_1096+6571del | ENSP00000405330.1:n.1096+6567_1096+6571del | |
| ENST00000443427.5:c.1096+6567_1096+6571del | ENSP00000387500.1:n.1096+6567_1096+6571del | |
| ENST00000456483.3:c.*110+70304_*110+70308del | ENSP00000415934.3:n.*110+70304_*110+70308del | |
| ENST00000482101.1:n.337+6567_337+6571del | ||
| NM_000125.3:c.1096+6567_1096+6571del | NP_000116.2:n.1096+6567_1096+6571del | |
| NM_001122740.1:c.1096+6567_1096+6571del | NP_001116212.1:n.1096+6567_1096+6571del | |
| NM_001122741.1:c.1096+6567_1096+6571del | NP_001116213.1:n.1096+6567_1096+6571del | |
| NM_001122742.1:c.1096+6567_1096+6571del | NP_001116214.1:n.1096+6567_1096+6571del | |
| NM_001291230.1:c.1102+6567_1102+6571del | NP_001278159.1:n.1102+6567_1102+6571del | |
| NM_001291241.1:c.1093+6567_1093+6571del | NP_001278170.1:n.1093+6567_1093+6571del | |
| XM_006715374.2:c.1096+6567_1096+6571del | XP_006715437.1:n.1096+6567_1096+6571del | |
| XM_006715375.2:c.577+6567_577+6571del | XP_006715438.1:n.577+6567_577+6571del | |
| XM_011535543.1:c.1096+6567_1096+6571del | XP_011533845.1:n.1096+6567_1096+6571del | |
| XM_011535544.1:c.1096+6567_1096+6571del | XP_011533846.1:n.1096+6567_1096+6571del | |
| XM_011535545.1:c.1096+6567_1096+6571del | XP_011533847.1:n.1096+6567_1096+6571del | |
| XM_011535546.1:c.1096+6567_1096+6571del | XP_011533848.1:n.1096+6567_1096+6571del | |
| XM_011535547.1:c.1096+6567_1096+6571del | XP_011533849.1:n.1096+6567_1096+6571del | |
| XM_011535548.1:c.577+6567_577+6571del | XP_011533850.1:n.577+6567_577+6571del | |
| XM_011535549.1:c.367+6567_367+6571del | XP_011533851.1:n.367+6567_367+6571del | |
| NM_001328100.1:c.577+6567_577+6571del | NP_001315029.1:n.577+6567_577+6571del | |
| XM_006715374.3:c.1096+6567_1096+6571del | XP_006715437.1:n.1096+6567_1096+6571del | |
| XM_006715375.3:c.577+6567_577+6571del | XP_006715438.1:n.577+6567_577+6571del | |
| XM_011535543.2:c.1096+6567_1096+6571del | XP_011533845.1:n.1096+6567_1096+6571del | |
| XM_011535544.2:c.1096+6567_1096+6571del | XP_011533846.1:n.1096+6567_1096+6571del | |
| XM_011535545.2:c.1096+6567_1096+6571del | XP_011533847.1:n.1096+6567_1096+6571del | |
| XM_011535547.2:c.1096+6567_1096+6571del | XP_011533849.1:n.1096+6567_1096+6571del | |
| XM_011535549.2:c.367+6567_367+6571del | XP_011533851.1:n.367+6567_367+6571del | |
| XM_017010376.1:c.1096+6567_1096+6571del | XP_016865865.1:n.1096+6567_1096+6571del | |
| XM_017010377.1:c.1096+6567_1096+6571del | XP_016865866.1:n.1096+6567_1096+6571del | |
| XM_017010378.1:c.1096+6567_1096+6571del | XP_016865867.1:n.1096+6567_1096+6571del | |
| XM_017010379.1:c.1096+6567_1096+6571del | XP_016865868.1:n.1096+6567_1096+6571del | |
| XM_017010380.1:c.1096+6567_1096+6571del | XP_016865869.1:n.1096+6567_1096+6571del | |
| XM_017010381.1:c.1096+6567_1096+6571del | XP_016865870.1:n.1096+6567_1096+6571del | |
| XM_017010382.2:c.439+6567_439+6571del | XP_016865871.1:n.439+6567_439+6571del | |
| XM_017010383.1:c.307+6567_307+6571del | XP_016865872.1:n.307+6567_307+6571del | |
| XR_001743223.2:n.1466+6567_1466+6571del | ||
| XR_002956266.1:n.1466+6567_1466+6571del | ||
| NM_000125.4:c.1096+6567_1096+6571del MANE Select | NP_000116.2:n.1096+6567_1096+6571del | |
| NM_001328100.2:c.577+6567_577+6571del | NP_001315029.1:n.577+6567_577+6571del | |
| NM_001122740.2:c.1096+6567_1096+6571del | NP_001116212.1:n.1096+6567_1096+6571del | |
| NM_001122741.2:c.1096+6567_1096+6571del | NP_001116213.1:n.1096+6567_1096+6571del | |
| NM_001122742.2:c.1096+6567_1096+6571del | NP_001116214.1:n.1096+6567_1096+6571del | |
| NM_001291230.2:c.1102+6567_1102+6571del | NP_001278159.1:n.1102+6567_1102+6571del | |
| NM_001291241.2:c.1093+6567_1093+6571del | NP_001278170.1:n.1093+6567_1093+6571del | |
| NM_001385568.1:c.1096+6567_1096+6571del | NP_001372497.1:n.1096+6567_1096+6571del | |
| NM_001385569.1:c.1096+6567_1096+6571del | NP_001372498.1:n.1096+6567_1096+6571del | |
| NM_001385570.1:c.1096+6567_1096+6571del | NP_001372499.1:n.1096+6567_1096+6571del | |
| NM_001385571.1:c.1096+6567_1096+6571del | NP_001372500.1:n.1096+6567_1096+6571del | |
| NM_001385572.1:c.1096+6567_1096+6571del | NP_001372501.1:n.1096+6567_1096+6571del |