Linked Data
ClinVar Variation Id:
38422
ClinVar RCV Id:
RCV000031978
dbSNP Id:
rs281865033
MyVariant Identifiers:
chr12:g.102153911_102153912insG (hg19)
chr12:g.101760133_101760134insG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101760133_101760134insG , CM000674.2:g.101760133_101760134insG | GRCh38 |
| NC_000012.11:g.102153911_102153912insG , CM000674.1:g.102153911_102153912insG | GRCh37 |
| NC_000012.10:g.100678042_100678043insG | NCBI36 |
| NG_021243.1:g.75734_75735insC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.3145_3146insC MANE Select | ENSP00000299314.7:p.Gly1049AlafsTer16 | |
| ENST00000299314.11:c.3145_3146insC | ENSP00000299314.7:p.Gly1049AlafsTer16 | |
| ENST00000549194.1:n.11_12insC | ||
| NM_024312.4:c.3145_3146insC | NP_077288.2:p.Gly1049AlafsTer16 | |
| XM_006719593.2:c.3145_3146insC | XP_006719656.1:p.Gly1049AlafsTer16 | |
| XM_011538731.1:c.3064_3065insC | XP_011537033.1:p.Gly1022AlafsTer16 | |
| XM_006719593.3:c.3145_3146insC | XP_006719656.1:p.Gly1049AlafsTer16 | |
| XM_011538731.2:c.3064_3065insC | XP_011537033.1:p.Gly1022AlafsTer16 | |
| XM_017019961.1:c.2929_2930insC | XP_016875450.1:p.Gly977AlafsTer16 | |
| XM_017019962.2:c.1918_1919insC | XP_016875451.1:p.Gly640AlafsTer16 | |
| NM_024312.5:c.3145_3146insC MANE Select | NP_077288.2:p.Gly1049AlafsTer16 |