Linked Data
ClinVar Variation Id:
1242129
ClinVar RCV Id:
RCV001647979
dbSNP Id:
rs61401956
gnomAD v2:
1-115220420-CTCCTTCCT-C
gnomAD v3:
1-114677799-CTCCTTCCT-C
gnomAD v4:
1-114677799-CTCCTTCCT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114677846_114677853del , CM000663.2:g.114677846_114677853del | GRCh38 |
| NC_000001.10:g.115220467_115220474del , CM000663.1:g.115220467_115220474del | GRCh37 |
| NC_000001.9:g.115021990_115021997del | NCBI36 |
| NG_008012.1:g.22749_22756del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369538.4:c.1212+103_1212+110del | ENSP00000358551.4:n.1212+103_1212+110del | |
| ENST00000520113.7:c.1224+103_1224+110del MANE Select | ENSP00000430075.3:n.1224+103_1224+110del | |
| ENST00000637080.1:c.1007+103_1007+110del | ENSP00000489753.1:n.1007+103_1007+110del | |
| ENST00000639077.1:n.889+103_889+110del | ||
| ENST00000369538.3:c.1311+103_1311+110del | ENSP00000358551.3:n.1311+103_1311+110del | |
| ENST00000520113.6:c.1323+103_1323+110del | ENSP00000430075.2:n.1323+103_1323+110del | |
| NM_000036.2:c.1323+103_1323+110del | NP_000027.2:n.1323+103_1323+110del | |
| NM_001172626.1:c.1311+103_1311+110del | NP_001166097.1:n.1311+103_1311+110del | |
| NM_000036.3:c.1224+103_1224+110del MANE Select | NP_000027.3:n.1224+103_1224+110del | |
| NM_001172626.2:c.1212+103_1212+110del | NP_001166097.2:n.1212+103_1212+110del |