Linked Data
ClinVar Variation Id:
456679
ClinVar RCV Id:
RCV000543650
dbSNP Id:
rs780345232
gnomAD v2:
19-33793007-TCGCCGC-T
gnomAD v3:
19-33302101-TCGCCGC-T
gnomAD v4:
19-33302101-TCGCCGC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.33302115_33302120del , CM000681.2:g.33302115_33302120del | GRCh38 |
| NC_000019.9:g.33793021_33793026del , CM000681.1:g.33793021_33793026del | GRCh37 |
| NC_000019.8:g.38484861_38484866del | NCBI36 |
| NG_012022.1:g.5418_5423del , LRG_456:g.5418_5423del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000498907.3:c.308_313del MANE Select | ENSP00000427514.1:p.Gly103_Gly104del | |
| ENST00000498907.2:c.308_313del | ENSP00000427514.1:p.Gly103_Gly104del | |
| NM_001285829.1:c.-50_-45del | NP_001272758.1:n.-50_-45del | |
| NM_001287424.1:c.413_418del | NP_001274353.1:p.Gly138_Gly139del | |
| NM_001287435.1:c.266_271del | NP_001274364.1:p.Gly89_Gly90del | |
| NM_004364.4:c.308_313del | NP_004355.2:p.Gly103_Gly104del | |
| NM_001287424.2:c.413_418del | NP_001274353.1:p.Gly138_Gly139del | |
| NM_004364.5:c.308_313del MANE Select | NP_004355.2:p.Gly103_Gly104del | |
| NM_001285829.2:c.-50_-45del | NP_001272758.1:n.-50_-45del | |
| NM_001287435.2:c.266_271del | NP_001274364.1:p.Gly89_Gly90del |