Linked Data
dbSNP Id:
rs996630740
gnomAD v2:
1-109417675-C-CTA
gnomAD v3:
1-108875053-C-CTA
gnomAD v4:
1-108875053-C-CTA
MyVariant Identifiers:
chr1:g.109417675_109417676insTA (hg19)
chr1:g.108875053_108875054insTA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.108875054_108875055insAT , CM000663.2:g.108875054_108875055insAT | GRCh38 |
| NC_000001.10:g.109417676_109417677insAT , CM000663.1:g.109417676_109417677insAT | GRCh37 |
| NC_000001.9:g.109219199_109219200insAT | NCBI36 |
| NG_028108.1:g.3074_3075insAT | |
| NG_028108.2:g.4705_4706insAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357393.6:c.1-25478_1-25477insTA | ENSP00000349968.6:n.1-25478_1-25477insTA | |
| ENST00000357393.5:c.115-25478_115-25477insTA | ENSP00000349968.5:n.115-25478_115-25477insTA | |
| XR_001738178.1:n.103+86_103+87insTA |