Linked Data
ClinVar Variation Id:
953315
ClinVar RCV Id:
RCV001225587
dbSNP Id:
rs776145713
gnomAD v2:
17-6328869-T-TGGGTGGCTCTGC
gnomAD v3:
17-6425549-T-TGGGTGGCTCTGC
gnomAD v4:
17-6425549-T-TGGGTGGCTCTGC
MyVariant Identifiers:
chr17:g.6328869_6328870insGGGTGGCTCTGC (hg19)
chr17:g.6425549_6425550insGGGTGGCTCTGC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.6425550_6425561dup , CM000679.2:g.6425550_6425561dup | GRCh38 |
| NC_000017.10:g.6328870_6328881dup , CM000679.1:g.6328870_6328881dup | GRCh37 |
| NC_000017.9:g.6269594_6269605dup | NCBI36 |
| NG_008474.1:g.14639_14650dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000381129.8:c.1054_1065dup MANE Select | ENSP00000370521.3:p.Pro355_Thr356insAlaGl... | |
| ENST00000250087.9:c.865_876dup | ENSP00000250087.5:p.Pro292_Thr293insAlaGl... | |
| ENST00000381128.2:c.*926_*937dup | ENSP00000370520.2:n.*926_*937dup | |
| ENST00000381129.7:c.1054_1065dup | ENSP00000370521.3:p.Pro355_Thr356insAlaGl... | |
| ENST00000570466.5:c.988_999dup | ENSP00000461287.1:p.Pro333_Thr334insAlaGl... | |
| ENST00000570584.5:c.251+8358_251+8369dup | ||
| ENST00000574506.5:c.1018_1029dup | ENSP00000458456.1:p.Pro343_Thr344insAlaGl... | |
| ENST00000575265.5:c.*1025_*1036dup | ENSP00000459673.1:n.*1025_*1036dup | |
| ENST00000576307.5:c.874_885dup | ENSP00000459522.1:p.Pro295_Thr296insAlaGl... | |
| ENST00000576776.5:c.982_993dup | ENSP00000460827.1:p.Pro331_Thr332insAlaGl... | |
| ENST00000621374.4:c.*72_*83dup | ENSP00000481337.1:n.*72_*83dup | |
| NM_001033054.2:c.865_876dup | NP_001028226.1:p.Pro292_Thr293insAlaGluPr... | |
| NM_001033055.2:c.874_885dup | NP_001028227.1:p.Pro295_Thr296insAlaGluPr... | |
| NM_001285399.2:c.1018_1029dup | NP_001272328.1:p.Pro343_Thr344insAlaGluPr... | |
| NM_001285400.2:c.988_999dup | NP_001272329.1:p.Pro333_Thr334insAlaGluPr... | |
| NM_001285401.2:c.982_993dup | NP_001272330.1:p.Pro331_Thr332insAlaGluPr... | |
| NM_001285402.1:c.937_948dup | NP_001272331.1:p.Pro316_Thr317insAlaGluPr... | |
| NM_014336.4:c.1054_1065dup | NP_055151.3:p.Pro355_Thr356insAlaGluProPr... | |
| NM_001033054.3:c.865_876dup | NP_001028226.1:p.Pro292_Thr293insAlaGluPr... | |
| NM_001033055.3:c.874_885dup | NP_001028227.1:p.Pro295_Thr296insAlaGluPr... | |
| NM_001285399.3:c.1018_1029dup | NP_001272328.1:p.Pro343_Thr344insAlaGluPr... | |
| NM_001285400.3:c.988_999dup | NP_001272329.1:p.Pro333_Thr334insAlaGluPr... | |
| NM_001285401.3:c.982_993dup | NP_001272330.1:p.Pro331_Thr332insAlaGluPr... | |
| NM_001285402.2:c.937_948dup | NP_001272331.1:p.Pro316_Thr317insAlaGluPr... | |
| NM_001285403.3:c.*1025_*1036dup | NP_001272332.1:n.*1025_*1036dup | |
| NM_014336.5:c.1054_1065dup MANE Select | NP_055151.3:p.Pro355_Thr356insAlaGluProPr... | |
| NM_001285403.4:c.*1025_*1036dup | NP_001272332.1:n.*1025_*1036dup |