Linked Data
dbSNP Id:
rs1250313590
gnomAD v2:
1-209959386-A-AGAGTT
gnomAD v3:
1-209786041-A-AGAGTT
gnomAD v4:
1-209786041-A-AGAGTT
MyVariant Identifiers:
chr1:g.209959386_209959387insGAGTT (hg19)
chr1:g.209786041_209786042insGAGTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.209786041_209786042insGAGTT , CM000663.2:g.209786041_209786042insGAGTT | GRCh38 |
| NC_000001.10:g.209959386_209959387insGAGTT , CM000663.1:g.209959386_209959387insGAGTT | GRCh37 |
| NC_000001.9:g.208026009_208026010insGAGTT | NCBI36 |
| NG_007081.2:g.25093_25094insAACTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696133.1:c.1401-2333_1401-2332insAACTC | ENSP00000512426.1:n.1401-2333_1401-2332insAACTC | |
| ENST00000696134.1:c.*3209_*3210insAACTC | ENSP00000512427.1:n.*3209_*3210insAACTC | |
| ENST00000367021.8:c.*2378_*2379insAACTC MANE Select | ENSP00000355988.3:n.*2378_*2379insAACTC | |
| ENST00000367021.7:c.*2378_*2379insAACTC | ENSP00000355988.3:n.*2378_*2379insAACTC | |
| ENST00000542854.5:c.*2378_*2379insAACTC | ENSP00000440532.1:n.*2378_*2379insAACTC | |
| NM_001206696.1:c.*2378_*2379insAACTC | NP_001193625.1:n.*2378_*2379insAACTC | |
| NM_006147.3:c.*2378_*2379insAACTC | NP_006138.1:n.*2378_*2379insAACTC | |
| NM_006147.4:c.*2378_*2379insAACTC MANE Select | NP_006138.1:n.*2378_*2379insAACTC | |
| NM_001206696.2:c.*2378_*2379insAACTC | NP_001193625.1:n.*2378_*2379insAACTC |