Linked Data
gnomAD v4:
12-21174748-C-CTCTTCTCAACAA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21174748_21174749insTCTTCTCAACAA , CM000674.2:g.21174748_21174749insTCTTCTCAACAA | GRCh38 |
| NC_000012.11:g.21327682_21327683insTCTTCTCAACAA , CM000674.1:g.21327682_21327683insTCTTCTCAACAA | GRCh37 |
| NC_000012.10:g.21218949_21218950insTCTTCTCAACAA | NCBI36 |
| NG_011745.1:g.48555_48556insTCTTCTCAACAA , LRG_1022:g.48555_48556insTCTTCTCAACAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256958.3:c.359+39_359+40insTCTTCTCAACAA MANE Select | ENSP00000256958.2:n.359+39_359+40insTCTTCTCAACAA | |
| ENST00000256958.2:c.359+39_359+40insTCTTCTCAACAA | ENSP00000256958.2:n.359+39_359+40insTCTTCTCAACAA | |
| ENST00000543498.5:c.426-2028_426-2027insTCTTCTCAACAA | ||
| NM_006446.4:c.359+39_359+40insTCTTCTCAACAA , LRG_1022t1:c.359+39_359+40insTCTTCTCAACAA | NP_006437.3:n.359+39_359+40insTCTTCTCAACAA | |
| NM_006446.5:c.359+39_359+40insTCTTCTCAACAA MANE Select | NP_006437.3:n.359+39_359+40insTCTTCTCAACAA |