Linked Data
ClinVar Variation Id:
370845
ClinVar RCV Id:
RCV000410677
dbSNP Id:
rs1057516810
gnomAD v4:
19-12666648-T-TA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12666648_12666649insA , CM000681.2:g.12666648_12666649insA | GRCh38 |
| NC_000019.9:g.12777462_12777463insA , CM000681.1:g.12777462_12777463insA | GRCh37 |
| NC_000019.8:g.12638462_12638463insA | NCBI36 |
| NG_008318.1:g.5129_5130insT | |
| NG_015814.1:g.4845_4846insA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000456935.7:c.53_54insT MANE Select | ENSP00000395473.2:p.Ala19SerfsTer? | |
| ENST00000221363.8:c.53_54insT | ENSP00000221363.4:p.Ala19SerfsTer? | |
| ENST00000456935.6:c.53_54insT | ENSP00000395473.2:p.Ala19SerfsTer? | |
| ENST00000466794.5:n.35_36insT | ||
| ENST00000486847.2:c.53_54insT | ENSP00000470174.1:p.Ala19SerfsTer? | |
| ENST00000596512.5:n.94_95insT | ||
| ENST00000597961.1:c.151-844_151-843insT | ENSP00000472710.1:n.151-844_151-843insT | |
| ENST00000598876.1:c.53_54insT | ENSP00000470533.1:p.Ala19SerfsTer? | |
| ENST00000600281.1:n.94_95insT | ||
| NM_000528.3:c.53_54insT | NP_000519.2:p.Ala19SerfsTer? | |
| NM_001173498.1:c.53_54insT | NP_001166969.1:p.Ala19SerfsTer? | |
| XM_005259913.1:c.53_54insT | XP_005259970.1:p.Ala19SerfsTer? | |
| XM_005259913.2:c.53_54insT | XP_005259970.1:p.Ala19SerfsTer? | |
| XM_024451518.1:c.-966_-965insT | XP_024307286.1:n.-966_-965insT | |
| NM_000528.4:c.53_54insT MANE Select | NP_000519.2:p.Ala19SerfsTer? | |
| NM_001173498.2:c.53_54insT | NP_001166969.1:p.Ala19SerfsTer? |