Linked Data
dbSNP Id:
rs1349320348
gnomAD v2:
1-171621651-G-GAGCTC
gnomAD v4:
1-171652511-G-GAGCTC
MyVariant Identifiers:
chr1:g.171621651_171621652insAGCTC (hg19)
chr1:g.171652511_171652512insAGCTC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171652511_171652512insAGCTC , CM000663.2:g.171652511_171652512insAGCTC | GRCh38 |
| NC_000001.10:g.171621651_171621652insAGCTC , CM000663.1:g.171621651_171621652insAGCTC | GRCh37 |
| NC_000001.9:g.169888274_169888275insAGCTC | NCBI36 |
| NG_008859.1:g.5122_5123insGAGCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.100_101insGAGCT MANE Select | ENSP00000037502.5:p.Thr34ArgfsTer? | |
| ENST00000638471.1:c.100_101insGAGCT | ENSP00000491206.1:p.Thr34ArgfsTer? | |
| ENST00000037502.10:c.100_101insGAGCT | ENSP00000037502.5:p.Thr34ArgfsTer? | |
| ENST00000614688.1:c.100_101insGAGCT | ENSP00000478680.1:p.Thr34ArgfsTer? | |
| NM_000261.1:c.100_101insGAGCT | NP_000252.1:p.Thr34ArgfsTer? | |
| NM_000261.2:c.100_101insGAGCT MANE Select | NP_000252.1:p.Thr34ArgfsTer? |