Linked Data
dbSNP Id:
rs1479016766
gnomAD v2:
17-37844059-C-CGGGGCTTACCGTGGGGGT
gnomAD v3:
17-39687806-C-CGGGGCTTACCGTGGGGGT
gnomAD v4:
17-39687806-C-CGGGGCTTACCGTGGGGGT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39687817_39687834dup , CM000679.2:g.39687817_39687834dup | GRCh38 |
| NC_000017.10:g.37844070_37844087dup , CM000679.1:g.37844070_37844087dup | GRCh37 |
| NC_000017.9:g.35097596_35097613dup | NCBI36 |
| NG_007503.1:g.4678_4695dup , LRG_724:g.4678_4695dup | |
| NG_034125.1:g.5247_5264dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300658.9:c.181+10_181+27dup | ||
| ENST00000300658.8:c.181+10_181+27dup | ||
| ENST00000309862.10:n.224+10_224+27dup | ||
| ENST00000378011.8:c.181+10_181+27dup | ||
| ENST00000429199.6:c.181+10_181+27dup | ||
| ENST00000579146.5:c.181+10_181+27dup | ||
| ENST00000582276.1:n.216+10_216+27dup | ||
| ENST00000584620.5:c.168+10_168+27dup | ||
| ENST00000584856.1:c.-35-1805_-35-1788dup | ENSP00000463785.1:n.-35-1805_-35-1788dup | |
| ENST00000614824.4:c.181+10_181+27dup | ||
| NM_001291726.1:c.181+10_181+27dup | ||
| NM_001291728.1:c.181+10_181+27dup | ||
| NM_001291730.1:c.181+10_181+27dup | ||
| NM_001291732.1:c.181+10_181+27dup | ||
| NM_001291733.1:c.181+10_181+27dup | ||
| NM_033419.4:c.181+10_181+27dup | ||
| XM_011525480.1:c.181+10_181+27dup | ||
| XM_011525481.1:c.-307+10_-307+27dup | ||
| XR_934601.1:n.224+10_224+27dup | ||
| XM_011525480.2:c.181+10_181+27dup | ||
| XM_011525481.2:c.-307+10_-307+27dup | ||
| XR_002958086.1:n.224+10_224+27dup | ||
| NM_033419.5:c.181+10_181+27dup | ||
| NM_001291726.2:c.181+10_181+27dup | ||
| NM_001291728.2:c.181+10_181+27dup | ||
| NM_001291730.2:c.181+10_181+27dup | ||
| NM_001291732.2:c.181+10_181+27dup | ||
| NM_001291733.2:c.181+10_181+27dup |