Linked Data
gnomAD v2:
2-44114315-C-CAAAAAA
gnomAD v3:
2-43887176-C-CAAAAAA
gnomAD v4:
2-43887176-C-CAAAAAA
MyVariant Identifiers:
chr2:g.44114315_44114316insAAAAAA (hg19)
chr2:g.43887176_43887177insAAAAAA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43887179_43887180insAAAAAA , CM000664.2:g.43887179_43887180insAAAAAA | GRCh38 |
| NC_000002.11:g.44114318_44114319insAAAAAA , CM000664.1:g.44114318_44114319insAAAAAA | GRCh37 |
| NC_000002.10:g.43967822_43967823insAAAAAA | NCBI36 |
| NG_008247.1:g.113829_113830insTTTTTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682612.1:c.2375_2376insTTTTTT | ||
| ENST00000684454.1:n.9472_9473insTTTTTT | ||
| ENST00000260665.12:c.*1423_*1424insTTTTTT MANE Select | ENSP00000260665.7:n.*1423_*1424insTTTTTT | |
| ENST00000260665.11:c.*1423_*1424insTTTTTT | ENSP00000260665.7:n.*1423_*1424insTTTTTT | |
| NM_133259.3:c.*1423_*1424insTTTTTT | NP_573566.2:n.*1423_*1424insTTTTTT | |
| XR_002958896.1:n.5790_5791insTTTTTT | ||
| NM_133259.4:c.*1423_*1424insTTTTTT MANE Select | NP_573566.2:n.*1423_*1424insTTTTTT |