Linked Data
dbSNP Id:
rs1663000783
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21002194_21002195insGTTG , CM000664.2:g.21002194_21002195insGTTG | GRCh38 |
| NC_000002.11:g.21225066_21225067insGTTG , CM000664.1:g.21225066_21225067insGTTG | GRCh37 |
| NC_000002.10:g.21078571_21078572insGTTG | NCBI36 |
| NG_011793.1:g.46880_46881insAACC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233242.5:c.13228_13229insAACC MANE Select | ENSP00000233242.1:p.Leu4410GlnfsTer11 | |
| ENST00000616098.4:c.13226_13227insAACC | ENSP00000477990.1:n.13226_13227insAACC | |
| NM_000384.2:c.13228_13229insAACC | NP_000375.2:p.Leu4410GlnfsTer11 | |
| XM_011532809.1:c.5870-2921_5870-2920insAACC | XP_011531111.1:n.5870-2921_5870-2920insAACC | |
| NM_000384.3:c.13228_13229insAACC MANE Select | NP_000375.3:p.Leu4410GlnfsTer11 |