Linked Data
dbSNP Id:
rs199898514
gnomAD v3:
12-117916132-C-CTTTTTT
gnomAD v4:
12-117916132-C-CTTTTTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.117916134_117916135insTTTTTT , CM000674.2:g.117916134_117916135insTTTTTT | GRCh38 |
| NC_000012.11:g.118353939_118353940insTTTTTT , CM000674.1:g.118353939_118353940insTTTTTT | GRCh37 |
| NC_000012.10:g.116838322_116838323insTTTTTT | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000339824.7:c.180+51943_180+51944insAAAAAA MANE Select | ENSP00000339952.4:n.180+51943_180+51944insAAAAAA | |
| ENST00000339824.6:c.180+51943_180+51944insAAAAAA | ENSP00000339952.4:n.180+51943_180+51944insAAAAAA | |
| ENST00000425217.5:c.93+51943_93+51944insAAAAAA | ENSP00000389715.1:n.93+51943_93+51944insAAAAAA | |
| NM_173598.4:c.93+51943_93+51944insAAAAAA | NP_775869.3:n.93+51943_93+51944insAAAAAA | |
| XM_011538224.1:c.180+51943_180+51944insAAAAAA | XP_011536526.1:n.180+51943_180+51944insAAAAAA | |
| XM_011538226.1:c.180+51943_180+51944insAAAAAA | XP_011536528.1:n.180+51943_180+51944insAAAAAA | |
| XM_011538229.1:c.180+51943_180+51944insAAAAAA | XP_011536531.1:n.180+51943_180+51944insAAAAAA | |
| XR_944522.1:n.1014+51943_1014+51944insAAAAAA | ||
| XM_011538224.3:c.180+51943_180+51944insAAAAAA | XP_011536526.1:n.180+51943_180+51944insAAAAAA | |
| XM_011538226.3:c.180+51943_180+51944insAAAAAA | XP_011536528.1:n.180+51943_180+51944insAAAAAA | |
| XM_011538229.3:c.180+51943_180+51944insAAAAAA | XP_011536531.1:n.180+51943_180+51944insAAAAAA | |
| XM_017019208.2:c.180+51943_180+51944insAAAAAA | XP_016874697.1:n.180+51943_180+51944insAAAAAA | |
| XM_017019209.2:c.180+51943_180+51944insAAAAAA | XP_016874698.1:n.180+51943_180+51944insAAAAAA | |
| NM_173598.6:c.180+51943_180+51944insAAAAAA MANE Select | NP_775869.4:n.180+51943_180+51944insAAAAAA |