Linked Data
dbSNP Id:
rs1867461415
gnomAD v3:
11-67586063-G-GCCTCCCT
gnomAD v4:
11-67586063-G-GCCTCCCT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67586063_67586064insCCTCCCT , CM000673.2:g.67586063_67586064insCCTCCCT | GRCh38 |
| NC_000011.9:g.67353534_67353535insCCTCCCT , CM000673.1:g.67353534_67353535insCCTCCCT | GRCh37 |
| NC_000011.8:g.67110110_67110111insCCTCCCT | NCBI36 |
| NG_012075.1:g.7469_7470insCCTCCCT , LRG_723:g.7469_7470insCCTCCCT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000398603.6:c.337-326_337-325insCCTCCCT | ENSP00000381604.1:n.337-326_337-325insCCT... | |
| ENST00000398606.10:c.337-41_337-40insCCTCCCT MANE Select | ENSP00000381607.3:n.337-41_337-40insCCTCC... | |
| ENST00000646888.1:c.*53-41_*53-40insCCTCCCT | ENSP00000494477.1:n.*53-41_*53-40insCCTCC... | |
| ENST00000398603.5:c.337-326_337-325insCCTCCCT | ENSP00000381604.1:n.337-326_337-325insCCT... | |
| ENST00000398606.7:c.337-41_337-40insCCTCCCT | ENSP00000381607.3:n.337-41_337-40insCCTCC... | |
| ENST00000467591.1:n.448-41_448-40insCCTCCCT | ||
| ENST00000494593.1:n.1132-41_1132-40insCCTCCCT | ||
| ENST00000498765.5:c.400-41_400-40insCCTCCCT | ||
| NM_000852.3:c.337-41_337-40insCCTCCCT , LRG_723t1:c.337-41_337-40insCCTCCCT | NP_000843.1:n.337-41_337-40insCCTCCCT | |
| NM_000852.4:c.337-41_337-40insCCTCCCT MANE Select | NP_000843.1:n.337-41_337-40insCCTCCCT |