Linked Data
ClinVar Variation Id:
21820
dbSNP Id:
rs397507169
gnomAD v4:
11-18285367-G-GTC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.18285368_18285369dup , CM000673.2:g.18285368_18285369dup | GRCh38 |
| NC_000011.9:g.18306915_18306916dup , CM000673.1:g.18306915_18306916dup | GRCh37 |
| NC_000011.8:g.18263491_18263492dup | NCBI36 |
| NG_008877.1:g.41806_41807dup , LRG_586:g.41806_41807dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349215.8:c.2928_2929dup MANE Select | ENSP00000265967.5:p.Thr977ArgfsTer15 | |
| ENST00000349215.7:c.2928_2929dup | ENSP00000265967.5:p.Thr977ArgfsTer15 | |
| ENST00000352460.7:n.1228+1222_1228+1223dup | ||
| ENST00000396253.7:c.2586_2587dup | ENSP00000379552.3:p.Thr863ArgfsTer15 | |
| ENST00000438420.6:c.2586_2587dup | ENSP00000399590.2:p.Thr863ArgfsTer15 | |
| ENST00000537258.1:c.249_250dup | ENSP00000437437.1:p.Thr84ArgfsTer15 | |
| ENST00000545561.1:n.989_990dup | ||
| NM_007216.3:c.2586_2587dup | NP_009147.3:p.Thr863ArgfsTer15 | |
| NM_181507.1:c.2928_2929dup , LRG_586t1:c.2928_2929dup | NP_852608.1:p.Thr977ArgfsTer15 | |
| NM_181508.1:c.2586_2587dup | NP_852609.1:p.Thr863ArgfsTer15 | |
| XM_011519862.1:c.2928_2929dup | XP_011518164.1:p.Thr977ArgfsTer15 | |
| XM_011519863.1:c.2928_2929dup | XP_011518165.1:p.Thr977ArgfsTer15 | |
| XM_011519864.1:c.2928_2929dup | XP_011518166.1:p.Thr977ArgfsTer15 | |
| XM_011519865.1:c.2817_2818dup | XP_011518167.1:p.Thr940ArgfsTer15 | |
| XM_011519866.1:c.2586_2587dup | XP_011518168.1:p.Thr863ArgfsTer15 | |
| XM_011519867.1:c.2586_2587dup | XP_011518169.1:p.Thr863ArgfsTer15 | |
| XM_011519868.1:c.2586_2587dup | XP_011518170.1:p.Thr863ArgfsTer15 | |
| XM_011519869.1:c.2928_2929dup | XP_011518171.1:p.Thr977ArgfsTer? | |
| XM_011519868.3:c.2586_2587dup | XP_011518170.1:p.Thr863ArgfsTer15 | |
| XM_017017149.1:c.2928_2929dup | XP_016872638.1:p.Thr977ArgfsTer15 | |
| XM_017017150.1:c.2928_2929dup | XP_016872639.1:p.Thr977ArgfsTer15 | |
| XM_017017151.2:c.2817_2818dup | XP_016872640.1:p.Thr940ArgfsTer15 | |
| XM_017017152.1:c.2817_2818dup | XP_016872641.1:p.Thr940ArgfsTer15 | |
| XM_017017153.2:c.2817_2818dup | XP_016872642.1:p.Thr940ArgfsTer15 | |
| XM_017017154.1:c.2586_2587dup | XP_016872643.1:p.Thr863ArgfsTer15 | |
| XR_001747750.1:n.3197_3198dup | ||
| XR_001747751.1:n.3197_3198dup | ||
| XR_001747752.1:n.2953_2954dup | ||
| XR_001747753.1:n.3070_3071dup | ||
| XR_001747754.2:n.2594_2595dup | ||
| XR_001747755.2:n.2516_2517dup | ||
| XR_001747756.2:n.2529_2530dup | ||
| NM_007216.4:c.2586_2587dup | NP_009147.3:p.Thr863ArgfsTer15 | |
| NM_181507.2:c.2928_2929dup MANE Select | NP_852608.1:p.Thr977ArgfsTer15 |