Linked Data
ClinVar Variation Id:
439074
ClinVar RCV Id:
RCV000507586
dbSNP Id:
rs1554392764
gnomAD v4:
7-117614610-T-TAGGAGA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117614621_117614626dup , CM000669.2:g.117614621_117614626dup | GRCh38 |
| NC_000007.13:g.117254675_117254680dup , CM000669.1:g.117254675_117254680dup | GRCh37 |
| NC_000007.12:g.117041911_117041916dup | NCBI36 |
| NG_016465.4:g.153838_153843dup , LRG_663:g.153838_153843dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.3376_3381dup | ||
| ENST00000647978.2:c.*3090_*3095dup | ||
| ENST00000649781.2:c.3193_3198dup | ||
| ENST00000685018.2:c.3376_3381dup | ||
| ENST00000687278.2:c.3376_3381dup | ||
| ENST00000699585.1:c.3376_3381dup | ||
| ENST00000699598.1:c.3376_3381dup | ||
| ENST00000699599.1:c.3376_3381dup | ||
| ENST00000699600.1:c.3376_3381dup | ||
| ENST00000699601.1:c.*1751_*1756dup | ENSP00000514470.1:n.*1751_*1756dup | |
| ENST00000699602.1:c.3370_3375dup | ||
| ENST00000699604.1:c.*3200_*3205dup | ||
| ENST00000699605.1:c.2950_2955dup | ||
| ENST00000685018.1:c.124_129dup | ||
| ENST00000687278.1:c.967_972dup | ||
| ENST00000003084.11:c.3376_3381dup | ||
| ENST00000647720.1:c.1026_1031dup | ||
| ENST00000648260.1:c.2158_2163dup | ||
| ENST00000649406.1:c.3193_3198dup | ||
| ENST00000649781.1:c.3193_3198dup | ||
| ENST00000003084.10:c.3376_3381dup | ||
| ENST00000426809.5:c.3286_3291dup | ||
| ENST00000468795.1:c.201_206dup | ||
| NM_000492.3:c.3376_3381dup , LRG_663t1:c.3376_3381dup | ||
| XM_011515751.1:c.3466_3471dup | ||
| XM_011515752.1:c.3466_3471dup | ||
| XM_011515753.1:c.3133_3138dup | ||
| XM_011515754.1:c.3133_3138dup | ||
| NM_000492.4:c.3376_3381dup |