Linked Data
ClinVar Variation Id:
374933
dbSNP Id:
rs1057519018
gnomAD v2:
9-100447228-TTC-T
gnomAD v4:
9-97684946-TTC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.97684948_97684949del , CM000671.2:g.97684948_97684949del | GRCh38 |
| NC_000009.11:g.100447230_100447231del , CM000671.1:g.100447230_100447231del | GRCh37 |
| NC_000009.10:g.99487051_99487052del | NCBI36 |
| NG_011642.1:g.17462_17463del , LRG_471:g.17462_17463del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375128.5:c.648_649del MANE Select | ENSP00000364270.5:p.Lys217GlufsTer3 | |
| ENST00000375128.4:c.648_649del | ENSP00000364270.4:p.Lys217GlufsTer3 | |
| ENST00000462523.5:c.648_649del | ENSP00000433006.1:p.Lys217GlufsTer3 | |
| NM_000380.3:c.648_649del , LRG_471t1:c.648_649del | NP_000371.1:p.Lys217GlufsTer3 | |
| NR_027302.1:n.765_766del | ||
| XM_006717278.1:c.648_649del | XP_006717341.1:p.Lys217GlufsTer3 | |
| XM_011518988.1:c.648_649del | XP_011517290.1:p.Lys217GlufsTer3 | |
| XR_929839.1:n.759_760del | ||
| NM_001354975.1:c.522_523del | NP_001341904.1:p.Lys175GlufsTer3 | |
| NR_149091.1:n.493_494del | ||
| NR_149092.1:n.659_660del | ||
| NR_149093.1:n.765_766del | ||
| NR_149094.1:n.659_660del | ||
| NM_000380.4:c.648_649del MANE Select | NP_000371.1:p.Lys217GlufsTer3 | |
| NM_001354975.2:c.522_523del | NP_001341904.1:p.Lys175GlufsTer3 | |
| NR_027302.2:n.696_697del | ||
| NR_149091.2:n.424_425del | ||
| NR_149092.2:n.590_591del | ||
| NR_149093.2:n.696_697del | ||
| NR_149094.2:n.590_591del |