Linked Data
ClinVar Variation Id:
1233853
ClinVar RCV Id:
RCV001619035
dbSNP Id:
rs879675341
gnomAD v2:
10-8100128-ATG-A
gnomAD v3:
10-8058165-ATG-A
gnomAD v4:
10-8058165-ATG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.8058166_8058167del , CM000672.2:g.8058166_8058167del | GRCh38 |
| NC_000010.10:g.8100129_8100130del , CM000672.1:g.8100129_8100130del | GRCh37 |
| NC_000010.9:g.8140135_8140136del | NCBI36 |
| NG_015859.1:g.8463_8464del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000346208.4:c.242-139_242-138del | ENSP00000341619.3:n.242-139_242-138del | |
| ENST00000379328.9:c.242-139_242-138del MANE Select | ENSP00000368632.3:n.242-139_242-138del | |
| ENST00000481743.2:c.242-139_242-138del | ENSP00000493486.1:n.242-139_242-138del | |
| ENST00000346208.3:c.242-139_242-138del | ENSP00000341619.3:n.242-139_242-138del | |
| ENST00000379328.7:c.242-139_242-138del | ENSP00000368632.3:n.242-139_242-138del | |
| NM_001002295.1:c.242-139_242-138del | NP_001002295.1:n.242-139_242-138del | |
| NM_002051.2:c.242-139_242-138del | NP_002042.1:n.242-139_242-138del | |
| XM_005252442.2:c.242-139_242-138del | XP_005252499.1:n.242-139_242-138del | |
| XM_005252443.3:c.242-139_242-138del | XP_005252500.1:n.242-139_242-138del | |
| XM_005252443.5:c.242-139_242-138del | XP_005252500.1:n.242-139_242-138del | |
| NM_001002295.2:c.242-139_242-138del MANE Select | NP_001002295.1:n.242-139_242-138del | |
| NM_002051.3:c.242-139_242-138del | NP_002042.1:n.242-139_242-138del |