Linked Data
gnomAD v2:
4-100342030-A-AGAGAGC
gnomAD v3:
4-99420873-A-AGAGAGC
gnomAD v4:
4-99420873-A-AGAGAGC
MyVariant Identifiers:
chr4:g.100342030_100342031insGAGAGC (hg19)
chr4:g.99420873_99420874insGAGAGC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99420873_99420874insGAGAGC , CM000666.2:g.99420873_99420874insGAGAGC | GRCh38 |
| NC_000004.11:g.100342030_100342031insGAGAGC , CM000666.1:g.100342030_100342031insGAGAGC | GRCh37 |
| NC_000004.10:g.100561053_100561054insGAGAGC | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000437033.7:c.565-81_565-80insGCTCTC MANE Select | ENSP00000414254.2:n.565-81_565-80insGCTCTC | |
| ENST00000209665.8:c.601-81_601-80insGCTCTC | ENSP00000209665.4:n.601-81_601-80insGCTCTC | |
| ENST00000437033.6:c.565-81_565-80insGCTCTC | ENSP00000414254.2:n.565-81_565-80insGCTCTC | |
| ENST00000476959.5:c.625-81_625-80insGCTCTC | ENSP00000420269.1:n.625-81_625-80insGCTCTC | |
| ENST00000482593.5:c.394-81_394-80insGCTCTC | ENSP00000420613.1:n.394-81_394-80insGCTCTC | |
| NM_000673.4:c.601-81_601-80insGCTCTC | NP_000664.2:n.601-81_601-80insGCTCTC | |
| NM_001166504.1:c.625-81_625-80insGCTCTC | NP_001159976.1:n.625-81_625-80insGCTCTC | |
| NM_000673.7:c.565-81_565-80insGCTCTC MANE Select | NP_000664.3:n.565-81_565-80insGCTCTC | |
| NM_001166504.2:c.625-81_625-80insGCTCTC | NP_001159976.1:n.625-81_625-80insGCTCTC |