Linked Data
dbSNP Id:
rs1553120662
gnomAD v3:
1-25812604-C-CACACA
gnomAD v4:
1-25812604-C-CACACA
MyVariant Identifiers:
chr1:g.26139095_26139096insACACA (hg19)
chr1:g.25812604_25812605insACACA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.25812606_25812607insACAAC , CM000663.2:g.25812606_25812607insACAAC | GRCh38 |
| NC_000001.10:g.26139097_26139098insACAAC , CM000663.1:g.26139097_26139098insACAAC | GRCh37 |
| NC_000001.9:g.26011684_26011685insACAAC | NCBI36 |
| NG_009930.1:g.17431_17432insACAAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354177.9:c.1111-81_1111-80insACAAC | ENSP00000346109.5:n.1111-81_1111-80insACAAC | |
| ENST00000494537.2:c.1180-81_1180-80insACAAC | ENSP00000508308.1:n.1180-81_1180-80insACAAC | |
| ENST00000361547.7:c.1282-81_1282-80insACAAC MANE Select | ENSP00000355141.2:n.1282-81_1282-80insACAAC | |
| ENST00000354177.8:c.1180-81_1180-80insACAAC | ENSP00000346109.4:n.1180-81_1180-80insACAAC | |
| ENST00000361547.6:c.1282-81_1282-80insACAAC | ENSP00000355141.2:n.1282-81_1282-80insACAAC | |
| ENST00000374315.1:c.1180-81_1180-80insACAAC | ENSP00000363434.1:n.1180-81_1180-80insACAAC | |
| ENST00000559265.1:n.255+727_255+728insACAAC | ||
| NM_020451.2:c.1282-81_1282-80insACAAC | NP_065184.2:n.1282-81_1282-80insACAAC | |
| NM_206926.1:c.1180-81_1180-80insACAAC | NP_996809.1:n.1180-81_1180-80insACAAC | |
| NM_020451.3:c.1282-81_1282-80insACAAC MANE Select | NP_065184.2:n.1282-81_1282-80insACAAC | |
| NM_206926.2:c.1180-81_1180-80insACAAC | NP_996809.1:n.1180-81_1180-80insACAAC |