UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
gnomAD v4:
6-151944528-C-CTTTTTTTTTTTTTTTTTTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.151944532_151944533insTTTTTTTTTTTTTTTTTTT , CM000668.2:g.151944532_151944533insTTTTTTTTTTTTTTTTTTT | GRCh38 |
| NC_000006.11:g.152265667_152265668insTTTTTTTTTTTTTTTTTTT , CM000668.1:g.152265667_152265668insTTTTTTTTTTTTTTTTTTT | GRCh37 |
| NC_000006.10:g.152307360_152307361insTTTTTTTTTTTTTTTTTTT | NCBI36 |
| NG_008493.1:g.259037_259038insTTTTTTTTTTTTTTTTTTT | |
| NG_008493.2:g.292842_292843insTTTTTTTTTTTTTTTTTTT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000206249.8:c.1096+24_1096+25insTTTTTTTTTTTTTTTTTTT MANE Select | ENSP00000206249.3:n.1096+24_1096+25insTTT... | |
| ENST00000638569.1:c.42+283_42+284insTTTTTTTTTTTTTTTTTTT | ENSP00000491412.1:n.42+283_42+284insTTTTT... | |
| ENST00000641399.1:n.424+24_424+25insTTTTTTTTTTTTTTTTTTT | ||
| ENST00000206249.7:c.1096+24_1096+25insTTTTTTTTTTTTTTTTTTT | ENSP00000206249.3:n.1096+24_1096+25insTTT... | |
| ENST00000338799.9:c.1096+24_1096+25insTTTTTTTTTTTTTTTTTTT | ENSP00000342630.5:n.1096+24_1096+25insTTT... | |
| ENST00000406599.5:c.453-116459_453-116458insTTTTTTTTTTTTTTTTTTT | ENSP00000384064.1:n.453-116459_453-116458... | |
| ENST00000415488.1:c.115+63761_115+63762insTTTTTTTTTTTTTTTTTTT | ENSP00000401995.1:n.115+63761_115+63762in... | |
| ENST00000427531.6:c.577+24_577+25insTTTTTTTTTTTTTTTTTTT | ENSP00000394721.2:n.577+24_577+25insTTTTT... | |
| ENST00000440973.5:c.1096+24_1096+25insTTTTTTTTTTTTTTTTTTT | ENSP00000405330.1:n.1096+24_1096+25insTTT... | |
| ENST00000443427.5:c.1096+24_1096+25insTTTTTTTTTTTTTTTTTTT | ENSP00000387500.1:n.1096+24_1096+25insTTT... | |
| ENST00000456483.3:c.*110+63761_*110+63762insTTTTTTTTTTTTTTTTTTT | ENSP00000415934.3:n.*110+63761_*110+63762... | |
| ENST00000482101.1:n.337+24_337+25insTTTTTTTTTTTTTTTTTTT | ||
| NM_000125.3:c.1096+24_1096+25insTTTTTTTTTTTTTTTTTTT | NP_000116.2:n.1096+24_1096+25insTTTTTTTTT... | |
| NM_001122740.1:c.1096+24_1096+25insTTTTTTTTTTTTTTTTTTT | NP_001116212.1:n.1096+24_1096+25insTTTTTT... | |
| NM_001122741.1:c.1096+24_1096+25insTTTTTTTTTTTTTTTTTTT | NP_001116213.1:n.1096+24_1096+25insTTTTTT... | |
| NM_001122742.1:c.1096+24_1096+25insTTTTTTTTTTTTTTTTTTT | NP_001116214.1:n.1096+24_1096+25insTTTTTT... | |
| NM_001291230.1:c.1102+24_1102+25insTTTTTTTTTTTTTTTTTTT | NP_001278159.1:n.1102+24_1102+25insTTTTTT... | |
| NM_001291241.1:c.1093+24_1093+25insTTTTTTTTTTTTTTTTTTT | NP_001278170.1:n.1093+24_1093+25insTTTTTT... | |
| XM_006715374.2:c.1096+24_1096+25insTTTTTTTTTTTTTTTTTTT | XP_006715437.1:n.1096+24_1096+25insTTTTTT... | |
| XM_006715375.2:c.577+24_577+25insTTTTTTTTTTTTTTTTTTT | XP_006715438.1:n.577+24_577+25insTTTTTTTT... | |
| XM_011535543.1:c.1096+24_1096+25insTTTTTTTTTTTTTTTTTTT | XP_011533845.1:n.1096+24_1096+25insTTTTTT... | |
| XM_011535544.1:c.1096+24_1096+25insTTTTTTTTTTTTTTTTTTT | XP_011533846.1:n.1096+24_1096+25insTTTTTT... | |
| XM_011535545.1:c.1096+24_1096+25insTTTTTTTTTTTTTTTTTTT | XP_011533847.1:n.1096+24_1096+25insTTTTTT... | |
| XM_011535546.1:c.1096+24_1096+25insTTTTTTTTTTTTTTTTTTT | XP_011533848.1:n.1096+24_1096+25insTTTTTT... | |
| XM_011535547.1:c.1096+24_1096+25insTTTTTTTTTTTTTTTTTTT | XP_011533849.1:n.1096+24_1096+25insTTTTTT... | |
| XM_011535548.1:c.577+24_577+25insTTTTTTTTTTTTTTTTTTT | XP_011533850.1:n.577+24_577+25insTTTTTTTT... | |
| XM_011535549.1:c.367+24_367+25insTTTTTTTTTTTTTTTTTTT | XP_011533851.1:n.367+24_367+25insTTTTTTTT... | |
| NM_001328100.1:c.577+24_577+25insTTTTTTTTTTTTTTTTTTT | NP_001315029.1:n.577+24_577+25insTTTTTTTT... | |
| XM_006715374.3:c.1096+24_1096+25insTTTTTTTTTTTTTTTTTTT | XP_006715437.1:n.1096+24_1096+25insTTTTTT... | |
| XM_006715375.3:c.577+24_577+25insTTTTTTTTTTTTTTTTTTT | XP_006715438.1:n.577+24_577+25insTTTTTTTT... | |
| XM_011535543.2:c.1096+24_1096+25insTTTTTTTTTTTTTTTTTTT | XP_011533845.1:n.1096+24_1096+25insTTTTTT... | |
| XM_011535544.2:c.1096+24_1096+25insTTTTTTTTTTTTTTTTTTT | XP_011533846.1:n.1096+24_1096+25insTTTTTT... | |
| XM_011535545.2:c.1096+24_1096+25insTTTTTTTTTTTTTTTTTTT | XP_011533847.1:n.1096+24_1096+25insTTTTTT... | |
| XM_011535547.2:c.1096+24_1096+25insTTTTTTTTTTTTTTTTTTT | XP_011533849.1:n.1096+24_1096+25insTTTTTT... | |
| XM_011535549.2:c.367+24_367+25insTTTTTTTTTTTTTTTTTTT | XP_011533851.1:n.367+24_367+25insTTTTTTTT... | |
| XM_017010376.1:c.1096+24_1096+25insTTTTTTTTTTTTTTTTTTT | XP_016865865.1:n.1096+24_1096+25insTTTTTT... | |
| XM_017010377.1:c.1096+24_1096+25insTTTTTTTTTTTTTTTTTTT | XP_016865866.1:n.1096+24_1096+25insTTTTTT... | |
| XM_017010378.1:c.1096+24_1096+25insTTTTTTTTTTTTTTTTTTT | XP_016865867.1:n.1096+24_1096+25insTTTTTT... | |
| XM_017010379.1:c.1096+24_1096+25insTTTTTTTTTTTTTTTTTTT | XP_016865868.1:n.1096+24_1096+25insTTTTTT... | |
| XM_017010380.1:c.1096+24_1096+25insTTTTTTTTTTTTTTTTTTT | XP_016865869.1:n.1096+24_1096+25insTTTTTT... | |
| XM_017010381.1:c.1096+24_1096+25insTTTTTTTTTTTTTTTTTTT | XP_016865870.1:n.1096+24_1096+25insTTTTTT... | |
| XM_017010382.2:c.439+24_439+25insTTTTTTTTTTTTTTTTTTT | XP_016865871.1:n.439+24_439+25insTTTTTTTT... | |
| XM_017010383.1:c.307+24_307+25insTTTTTTTTTTTTTTTTTTT | XP_016865872.1:n.307+24_307+25insTTTTTTTT... | |
| XR_001743223.2:n.1466+24_1466+25insTTTTTTTTTTTTTTTTTTT | ||
| XR_002956266.1:n.1466+24_1466+25insTTTTTTTTTTTTTTTTTTT | ||
| NM_000125.4:c.1096+24_1096+25insTTTTTTTTTTTTTTTTTTT MANE Select | NP_000116.2:n.1096+24_1096+25insTTTTTTTTT... | |
| NM_001328100.2:c.577+24_577+25insTTTTTTTTTTTTTTTTTTT | NP_001315029.1:n.577+24_577+25insTTTTTTTT... | |
| NM_001122740.2:c.1096+24_1096+25insTTTTTTTTTTTTTTTTTTT | NP_001116212.1:n.1096+24_1096+25insTTTTTT... | |
| NM_001122741.2:c.1096+24_1096+25insTTTTTTTTTTTTTTTTTTT | NP_001116213.1:n.1096+24_1096+25insTTTTTT... | |
| NM_001122742.2:c.1096+24_1096+25insTTTTTTTTTTTTTTTTTTT | NP_001116214.1:n.1096+24_1096+25insTTTTTT... | |
| NM_001291230.2:c.1102+24_1102+25insTTTTTTTTTTTTTTTTTTT | NP_001278159.1:n.1102+24_1102+25insTTTTTT... | |
| NM_001291241.2:c.1093+24_1093+25insTTTTTTTTTTTTTTTTTTT | NP_001278170.1:n.1093+24_1093+25insTTTTTT... | |
| NM_001385568.1:c.1096+24_1096+25insTTTTTTTTTTTTTTTTTTT | NP_001372497.1:n.1096+24_1096+25insTTTTTT... | |
| NM_001385569.1:c.1096+24_1096+25insTTTTTTTTTTTTTTTTTTT | NP_001372498.1:n.1096+24_1096+25insTTTTTT... | |
| NM_001385570.1:c.1096+24_1096+25insTTTTTTTTTTTTTTTTTTT | NP_001372499.1:n.1096+24_1096+25insTTTTTT... | |
| NM_001385571.1:c.1096+24_1096+25insTTTTTTTTTTTTTTTTTTT | NP_001372500.1:n.1096+24_1096+25insTTTTTT... | |
| NM_001385572.1:c.1096+24_1096+25insTTTTTTTTTTTTTTTTTTT | NP_001372501.1:n.1096+24_1096+25insTTTTTT... |