Linked Data
dbSNP Id:
rs2134643309
gnomAD v3:
11-119029204-T-TGGGGCAAAGG
gnomAD v4:
11-119029204-T-TGGGGCAAAGG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119029205_119029206insGGGCAAAGGG , CM000673.2:g.119029205_119029206insGGGCAAAGGG | GRCh38 |
| NC_000011.9:g.118899915_118899916insGGGCAAAGGG , CM000673.1:g.118899915_118899916insGGGCAAAGGG | GRCh37 |
| NC_000011.8:g.118405125_118405126insGGGCAAAGGG | NCBI36 |
| NG_013331.1:g.6702_6703insCCTTTGCCCC , LRG_187:g.6702_6703insCCTTTGCCCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529510.6:n.377+17_377+18insCCTTTGCCCC | ||
| ENST00000697846.1:n.377+17_377+18insCCTTTGCCCC | ||
| ENST00000697847.1:n.377+17_377+18insCCTTTGCCCC | ||
| ENST00000697848.1:n.377+17_377+18insCCTTTGCCCC | ||
| ENST00000697849.1:n.638_639insCCTTTGCCCC | ||
| ENST00000697850.1:n.377+17_377+18insCCTTTGCCCC | ||
| ENST00000697851.1:n.638_639insCCTTTGCCCC | ||
| ENST00000638186.1:n.451+17_451+18insCCTTTGCCCC | ||
| ENST00000638360.1:n.385+17_385+18insCCTTTGCCCC | ||
| ENST00000638925.1:n.384+17_384+18insCCTTTGCCCC | ||
| ENST00000650539.1:n.553+17_553+18insCCTTTGCCCC | ||
| ENST00000330775.9:c.148+17_148+18insCCTTTGCCCC | ENSP00000476242.2:n.148+17_148+18insCCTTTGCCCC | |
| ENST00000357590.9:c.148+17_148+18insCCTTTGCCCC | ENSP00000476176.2:n.148+17_148+18insCCTTTGCCCC | |
| ENST00000524428.5:n.148+17_148+18insCCTTTGCCCC | ||
| ENST00000525039.5:n.571+17_571+18insCCTTTGCCCC | ||
| ENST00000525102.5:n.905+17_905+18insCCTTTGCCCC | ||
| ENST00000525372.5:n.148+17_148+18insCCTTTGCCCC | ||
| ENST00000525787.1:n.443+17_443+18insCCTTTGCCCC | ||
| ENST00000526626.6:n.343+17_343+18insCCTTTGCCCC | ||
| ENST00000527992.5:n.375+17_375+18insCCTTTGCCCC | ||
| ENST00000529510.5:n.166+17_166+18insCCTTTGCCCC | ||
| ENST00000530407.5:n.197+187_197+188insCCTTTGCCCC | ||
| ENST00000532085.1:n.1659_1660insCCTTTGCCCC | ||
| ENST00000532888.6:n.343+17_343+18insCCTTTGCCCC | ||
| ENST00000534384.1:n.368+17_368+18insCCTTTGCCCC | ||
| ENST00000538950.5:c.-172+187_-172+188insCCTTTGCCCC | ENSP00000475991.2:n.-172+187_-172+188insCCTTTGCCCC | |
| ENST00000545985.5:c.148+17_148+18insCCTTTGCCCC | ENSP00000475241.2:n.148+17_148+18insCCTTTGCCCC | |
| NM_001164277.1:c.148+17_148+18insCCTTTGCCCC , LRG_187t1:c.148+17_148+18insCCTTTGCCCC | NP_001157749.1:n.148+17_148+18insCCTTTGCCCC | |
| NM_001164278.1:c.148+17_148+18insCCTTTGCCCC | NP_001157750.1:n.148+17_148+18insCCTTTGCCCC | |
| NM_001164279.1:c.-172+187_-172+188insCCTTTGCCCC | NP_001157751.1:n.-172+187_-172+188insCCTTTGCCCC | |
| NM_001164280.1:c.148+17_148+18insCCTTTGCCCC | NP_001157752.1:n.148+17_148+18insCCTTTGCCCC | |
| NM_001467.5:c.148+17_148+18insCCTTTGCCCC | NP_001458.1:n.148+17_148+18insCCTTTGCCCC | |
| NM_001164278.2:c.148+17_148+18insCCTTTGCCCC | NP_001157750.1:n.148+17_148+18insCCTTTGCCCC | |
| NM_001164279.2:c.-172+187_-172+188insCCTTTGCCCC | NP_001157751.1:n.-172+187_-172+188insCCTTTGCCCC | |
| NM_001164280.2:c.148+17_148+18insCCTTTGCCCC | NP_001157752.1:n.148+17_148+18insCCTTTGCCCC | |
| NM_001467.6:c.148+17_148+18insCCTTTGCCCC | NP_001458.1:n.148+17_148+18insCCTTTGCCCC | |
| NM_001164277.2:c.148+17_148+18insCCTTTGCCCC MANE Select | NP_001157749.1:n.148+17_148+18insCCTTTGCCCC |