Linked Data
gnomAD v3:
5-13769247-G-GTTTTTTTTTTTTTTTTTTTTTTT
gnomAD v4:
5-13769247-G-GTTTTTTTTTTTTTTTTTTTTTTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13769265_13769266insTTTTTTTTTTTTTTTTTTTTTTT , CM000667.2:g.13769265_13769266insTTTTTTTTTTTTTTTTTTTTTTT | GRCh38 |
| NC_000005.9:g.13769374_13769375insTTTTTTTTTTTTTTTTTTTTTTT , CM000667.1:g.13769374_13769375insTTTTTTTTTTTTTTTTTTTTTTT | GRCh37 |
| NC_000005.8:g.13822374_13822375insTTTTTTTTTTTTTTTTTTTTTTT | NCBI36 |
| NG_013081.1:g.180233_180234insAAAAAAAAAAAAAAAAAAAAAAA | |
| NG_013081.2:g.180233_180234insAAAAAAAAAAAAAAAAAAAAAAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.9721-112_9721-111insAAAAAAAAAAAAAAAAAAAAAAA MANE Select | ENSP00000265104.4:n.9721-112_9721-111insAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000681290.1:c.9676-112_9676-111insAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000505288.1:n.9676-112_9676-111insAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000265104.4:c.9721-112_9721-111insAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000265104.4:n.9721-112_9721-111insAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000504001.3:n.433-112_433-111insAAAAAAAAAAAAAAAAAAAAAAA | ||
| NM_001369.2:c.9721-112_9721-111insAAAAAAAAAAAAAAAAAAAAAAA | NP_001360.1:n.9721-112_9721-111insAAAAAAAAAAAAAAAAAAAAAAA | |
| XM_005248262.2:c.9676-112_9676-111insAAAAAAAAAAAAAAAAAAAAAAA | XP_005248319.1:n.9676-112_9676-111insAAAAAAAAAAAAAAAAAAAAAAA | |
| XM_005248262.3:c.9829-112_9829-111insAAAAAAAAAAAAAAAAAAAAAAA | XP_005248319.2:n.9829-112_9829-111insAAAAAAAAAAAAAAAAAAAAAAA | |
| XM_017009177.1:c.9829-112_9829-111insAAAAAAAAAAAAAAAAAAAAAAA | XP_016864666.1:n.9829-112_9829-111insAAAAAAAAAAAAAAAAAAAAAAA | |
| XM_017009178.1:c.8734-112_8734-111insAAAAAAAAAAAAAAAAAAAAAAA | XP_016864667.1:n.8734-112_8734-111insAAAAAAAAAAAAAAAAAAAAAAA | |
| XM_017009179.2:c.8734-112_8734-111insAAAAAAAAAAAAAAAAAAAAAAA | XP_016864668.1:n.8734-112_8734-111insAAAAAAAAAAAAAAAAAAAAAAA | |
| XM_017009180.1:c.9829-112_9829-111insAAAAAAAAAAAAAAAAAAAAAAA | XP_016864669.1:n.9829-112_9829-111insAAAAAAAAAAAAAAAAAAAAAAA | |
| XM_017009181.1:c.9829-112_9829-111insAAAAAAAAAAAAAAAAAAAAAAA | XP_016864670.1:n.9829-112_9829-111insAAAAAAAAAAAAAAAAAAAAAAA | |
| XM_017009182.1:c.9829-112_9829-111insAAAAAAAAAAAAAAAAAAAAAAA | XP_016864671.1:n.9829-112_9829-111insAAAAAAAAAAAAAAAAAAAAAAA | |
| XM_017009185.1:c.4918-112_4918-111insAAAAAAAAAAAAAAAAAAAAAAA | XP_016864674.1:n.4918-112_4918-111insAAAAAAAAAAAAAAAAAAAAAAA | |
| XM_017009186.1:c.4471-112_4471-111insAAAAAAAAAAAAAAAAAAAAAAA | XP_016864675.1:n.4471-112_4471-111insAAAAAAAAAAAAAAAAAAAAAAA | |
| XM_017009188.1:c.3808-112_3808-111insAAAAAAAAAAAAAAAAAAAAAAA | XP_016864677.1:n.3808-112_3808-111insAAAAAAAAAAAAAAAAAAAAAAA | |
| XM_024454388.1:c.8734-112_8734-111insAAAAAAAAAAAAAAAAAAAAAAA | XP_024310156.1:n.8734-112_8734-111insAAAAAAAAAAAAAAAAAAAAAAA | |
| XM_024454389.1:c.8323-112_8323-111insAAAAAAAAAAAAAAAAAAAAAAA | XP_024310157.1:n.8323-112_8323-111insAAAAAAAAAAAAAAAAAAAAAAA | |
| NM_001369.3:c.9721-112_9721-111insAAAAAAAAAAAAAAAAAAAAAAA MANE Select | NP_001360.1:n.9721-112_9721-111insAAAAAAAAAAAAAAAAAAAAAAA |