Linked Data
ClinVar Variation Id:
324306
dbSNP Id:
rs1555571892
gnomAD v3:
17-61680480-C-CTTTCT
gnomAD v4:
17-61680480-C-CTTTCT
MyVariant Identifiers:
chr17:g.59757841_59757842insTTTCT (hg19)
chr17:g.61680480_61680481insTTTCT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61680483_61680484insCTTTT , CM000679.2:g.61680483_61680484insCTTTT | GRCh38 |
| NC_000017.10:g.59757844_59757845insCTTTT , CM000679.1:g.59757844_59757845insCTTTT | GRCh37 |
| NC_000017.9:g.57112626_57112627insCTTTT | NCBI36 |
| NG_007409.2:g.188079_188080insAGAAA , LRG_300:g.188079_188080insAGAAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682755.1:c.*2815_*2816insAGAAA | ENSP00000507660.1:n.*2815_*2816insAGAAA | |
| ENST00000259008.7:c.*2815_*2816insAGAAA MANE Select | ENSP00000259008.2:n.*2815_*2816insAGAAA | |
| NM_032043.2:c.*2815_*2816insAGAAA , LRG_300t1:c.*2815_*2816insAGAAA | NP_114432.2:n.*2815_*2816insAGAAA | |
| NM_032043.3:c.*2815_*2816insAGAAA MANE Select | NP_114432.2:n.*2815_*2816insAGAAA |