Linked Data
dbSNP Id:
rs36092508
gnomAD v3:
5-13769247-G-GTTTTTTTTTTTTTTTTTTTTTTTTTTT
gnomAD v4:
5-13769247-G-GTTTTTTTTTTTTTTTTTTTTTTTTTTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13769265_13769266insTTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000667.2:g.13769265_13769266insTTTTTTTTTTTTTTTTTTTTTTTTTTT | GRCh38 |
| NC_000005.9:g.13769374_13769375insTTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000667.1:g.13769374_13769375insTTTTTTTTTTTTTTTTTTTTTTTTTTT | GRCh37 |
| NC_000005.8:g.13822374_13822375insTTTTTTTTTTTTTTTTTTTTTTTTTTT | NCBI36 |
| NG_013081.1:g.180233_180234insAAAAAAAAAAAAAAAAAAAAAAAAAAA | |
| NG_013081.2:g.180233_180234insAAAAAAAAAAAAAAAAAAAAAAAAAAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.9721-112_9721-111insAAAAAAAAAAAAAAAAAAAAAAAAAAA MANE Select | ENSP00000265104.4:n.9721-112_9721-111insAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000681290.1:c.9676-112_9676-111insAAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000505288.1:n.9676-112_9676-111insAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000265104.4:c.9721-112_9721-111insAAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000265104.4:n.9721-112_9721-111insAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000504001.3:n.433-112_433-111insAAAAAAAAAAAAAAAAAAAAAAAAAAA | ||
| NM_001369.2:c.9721-112_9721-111insAAAAAAAAAAAAAAAAAAAAAAAAAAA | NP_001360.1:n.9721-112_9721-111insAAAAAAAAAAAAAAAAAAAAAAAAAAA... | |
| XM_005248262.2:c.9676-112_9676-111insAAAAAAAAAAAAAAAAAAAAAAAAAAA | XP_005248319.1:n.9676-112_9676-111insAAAAAAAAAAAAAAAAAAAAAAAA... | |
| XM_005248262.3:c.9829-112_9829-111insAAAAAAAAAAAAAAAAAAAAAAAAAAA | XP_005248319.2:n.9829-112_9829-111insAAAAAAAAAAAAAAAAAAAAAAAA... | |
| XM_017009177.1:c.9829-112_9829-111insAAAAAAAAAAAAAAAAAAAAAAAAAAA | XP_016864666.1:n.9829-112_9829-111insAAAAAAAAAAAAAAAAAAAAAAAA... | |
| XM_017009178.1:c.8734-112_8734-111insAAAAAAAAAAAAAAAAAAAAAAAAAAA | XP_016864667.1:n.8734-112_8734-111insAAAAAAAAAAAAAAAAAAAAAAAA... | |
| XM_017009179.2:c.8734-112_8734-111insAAAAAAAAAAAAAAAAAAAAAAAAAAA | XP_016864668.1:n.8734-112_8734-111insAAAAAAAAAAAAAAAAAAAAAAAA... | |
| XM_017009180.1:c.9829-112_9829-111insAAAAAAAAAAAAAAAAAAAAAAAAAAA | XP_016864669.1:n.9829-112_9829-111insAAAAAAAAAAAAAAAAAAAAAAAA... | |
| XM_017009181.1:c.9829-112_9829-111insAAAAAAAAAAAAAAAAAAAAAAAAAAA | XP_016864670.1:n.9829-112_9829-111insAAAAAAAAAAAAAAAAAAAAAAAA... | |
| XM_017009182.1:c.9829-112_9829-111insAAAAAAAAAAAAAAAAAAAAAAAAAAA | XP_016864671.1:n.9829-112_9829-111insAAAAAAAAAAAAAAAAAAAAAAAA... | |
| XM_017009185.1:c.4918-112_4918-111insAAAAAAAAAAAAAAAAAAAAAAAAAAA | XP_016864674.1:n.4918-112_4918-111insAAAAAAAAAAAAAAAAAAAAAAAA... | |
| XM_017009186.1:c.4471-112_4471-111insAAAAAAAAAAAAAAAAAAAAAAAAAAA | XP_016864675.1:n.4471-112_4471-111insAAAAAAAAAAAAAAAAAAAAAAAA... | |
| XM_017009188.1:c.3808-112_3808-111insAAAAAAAAAAAAAAAAAAAAAAAAAAA | XP_016864677.1:n.3808-112_3808-111insAAAAAAAAAAAAAAAAAAAAAAAA... | |
| XM_024454388.1:c.8734-112_8734-111insAAAAAAAAAAAAAAAAAAAAAAAAAAA | XP_024310156.1:n.8734-112_8734-111insAAAAAAAAAAAAAAAAAAAAAAAA... | |
| XM_024454389.1:c.8323-112_8323-111insAAAAAAAAAAAAAAAAAAAAAAAAAAA | XP_024310157.1:n.8323-112_8323-111insAAAAAAAAAAAAAAAAAAAAAAAA... | |
| NM_001369.3:c.9721-112_9721-111insAAAAAAAAAAAAAAAAAAAAAAAAAAA MANE Select | NP_001360.1:n.9721-112_9721-111insAAAAAAAAAAAAAAAAAAAAAAAAAAA... |