Linked Data
ClinVar Variation Id:
1355405
ClinVar RCV Id:
RCV001866904
dbSNP Id:
rs1821111380
gnomAD v4:
9-34646744-G-GT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34646744_34646745insT , CM000671.2:g.34646744_34646745insT | GRCh38 |
| NC_000009.11:g.34646741_34646742insT , CM000671.1:g.34646741_34646742insT | GRCh37 |
| NC_000009.10:g.34636741_34636742insT | NCBI36 |
| NG_009029.1:g.5107_5108insT | |
| NG_009029.2:g.5156_5157insT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691183.1:c.40_41insT | ENSP00000509954.1:p.Ala14ValfsTer27 | |
| ENST00000378842.8:c.40_41insT MANE Select | ENSP00000368119.4:p.Ala14ValfsTer27 | |
| ENST00000378842.7:c.40_41insT | ENSP00000368119.3:p.Ala14ValfsTer27 | |
| ENST00000450095.6:c.-163_-162insT | ENSP00000401956.2:n.-163_-162insT | |
| ENST00000465543.6:n.77_78insT | ||
| ENST00000468099.2:n.112_113insT | ||
| ENST00000472111.5:n.81_82insT | ||
| ENST00000473506.6:c.40_41insT | ENSP00000432839.2:p.Ala14ValfsTer27 | |
| ENST00000473529.5:n.87_88insT | ||
| ENST00000487381.5:n.66_67insT | ||
| ENST00000489643.6:n.70_71insT | ||
| ENST00000554085.5:c.40_41insT | ENSP00000450419.1:p.Ala14ValfsTer27 | |
| ENST00000554139.5:n.93_94insT | ||
| ENST00000554550.5:c.40_41insT | ENSP00000451435.1:p.Ala14ValfsTer27 | |
| ENST00000554638.5:n.64_65insT | ||
| ENST00000554897.5:c.40_41insT | ENSP00000450942.1:p.Ala14ValfsTer27 | |
| ENST00000554944.5:n.70_71insT | ||
| ENST00000555020.5:n.70_71insT | ||
| ENST00000555214.5:n.49_50insT | ||
| ENST00000556278.1:c.40_41insT | ENSP00000451792.1:p.Ala14ValfsTer27 | |
| ENST00000557541.5:n.100_101insT | ||
| ENST00000605275.1:n.276_277insT | ||
| NM_000155.3:c.40_41insT | NP_000146.2:p.Ala14ValfsTer27 | |
| NM_001258332.1:c.-163_-162insT | NP_001245261.1:n.-163_-162insT | |
| NM_000155.4:c.40_41insT MANE Select | NP_000146.2:p.Ala14ValfsTer27 | |
| NM_001258332.2:c.-163_-162insT | NP_001245261.1:n.-163_-162insT |