Linked Data
dbSNP Id:
rs1199983054
gnomAD v2:
1-154544164-C-CGA
gnomAD v4:
1-154571688-C-CGA
MyVariant Identifiers:
chr1:g.154544164_154544165insGA (hg19)
chr1:g.154571688_154571689insGA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154571688_154571689insGA , CM000663.2:g.154571688_154571689insGA | GRCh38 |
| NC_000001.10:g.154544164_154544165insGA , CM000663.1:g.154544164_154544165insGA | GRCh37 |
| NC_000001.9:g.152810788_152810789insGA | NCBI36 |
| NG_008027.1:g.8908_8909insGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368476.4:c.865_866insGA MANE Select | ENSP00000357461.3:p.Pro289ArgfsTer? | |
| ENST00000636034.1:c.865_866insGA | ENSP00000489703.1:p.Pro289ArgfsTer? | |
| ENST00000637900.1:c.871_872insGA | ENSP00000490474.1:p.Pro291ArgfsTer? | |
| ENST00000368476.3:c.865_866insGA | ENSP00000357461.3:p.Pro289ArgfsTer? | |
| NM_000748.2:c.865_866insGA | NP_000739.1:p.Pro289ArgfsTer? | |
| XM_017000180.2:c.355_356insGA | XP_016855669.1:p.Pro119ArgfsTer? | |
| XR_001736952.2:n.1117_1118insGA | ||
| NM_000748.3:c.865_866insGA MANE Select | NP_000739.1:p.Pro289ArgfsTer? |