Linked Data
ClinVar Variation Id:
1577153
ClinVar RCV Id:
RCV002080838
dbSNP Id:
rs748465398
ExAC:
11:108017095 AAAT / A
gnomAD v2:
11-108017095-AAAT-A
gnomAD v3:
11-108146368-AAAT-A
gnomAD v4:
11-108146368-AAAT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108146374_108146376del , CM000673.2:g.108146374_108146376del | GRCh38 |
| NC_000011.9:g.108017101_108017103del , CM000673.1:g.108017101_108017103del | GRCh37 |
| NC_000011.8:g.107522311_107522313del | NCBI36 |
| NG_009888.1:g.29844_29846del | |
| NG_009888.2:g.34670_34672del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265838.9:c.1163+15_1163+17del MANE Select | ENSP00000265838.4:n.1163+15_1163+17del | |
| ENST00000671707.1:n.1258+15_1258+17del | ||
| ENST00000672031.1:c.*150+15_*150+17del | ENSP00000500463.1:n.*150+15_*150+17del | |
| ENST00000672284.1:c.893+15_893+17del | ENSP00000500444.1:n.893+15_893+17del | |
| ENST00000672354.1:c.1163+15_1163+17del | ENSP00000500490.1:n.1163+15_1163+17del | |
| ENST00000672367.1:c.800+15_800+17del | ENSP00000500209.1:n.800+15_800+17del | |
| ENST00000672580.1:c.*418+15_*418+17del | ENSP00000500366.1:n.*418+15_*418+17del | |
| ENST00000672907.1:c.848+15_848+17del | ENSP00000500928.1:n.848+15_848+17del | |
| ENST00000673000.1:n.1251+15_1251+17del | ||
| ENST00000673531.1:c.893+15_893+17del | ENSP00000500163.1:n.893+15_893+17del | |
| ENST00000265838.8:c.1163+15_1163+17del | ENSP00000265838.4:n.1163+15_1163+17del | |
| ENST00000533597.1:n.239+15_239+17del | ||
| NM_000019.3:c.1163+15_1163+17del | NP_000010.1:n.1163+15_1163+17del | |
| XM_006718834.2:c.893+15_893+17del | XP_006718897.1:n.893+15_893+17del | |
| XM_006718835.2:c.893+15_893+17del | XP_006718898.1:n.893+15_893+17del | |
| XM_006718835.3:c.893+15_893+17del | XP_006718898.1:n.893+15_893+17del | |
| XM_017017681.1:c.893+15_893+17del | XP_016873170.1:n.893+15_893+17del | |
| XM_017017682.2:c.785+15_785+17del | XP_016873171.1:n.785+15_785+17del | |
| XM_017017683.2:c.785+15_785+17del | XP_016873172.1:n.785+15_785+17del | |
| XM_024448511.1:c.893+15_893+17del | XP_024304279.1:n.893+15_893+17del | |
| XM_024448512.1:c.893+15_893+17del | XP_024304280.1:n.893+15_893+17del | |
| XM_024448513.1:c.893+15_893+17del | XP_024304281.1:n.893+15_893+17del | |
| XM_024448514.1:c.893+15_893+17del | XP_024304282.1:n.893+15_893+17del | |
| XM_024448515.1:c.893+15_893+17del | XP_024304283.1:n.893+15_893+17del | |
| NM_000019.4:c.1163+15_1163+17del MANE Select | NP_000010.1:n.1163+15_1163+17del | |
| NM_001386677.1:c.1163+15_1163+17del | NP_001373606.1:n.1163+15_1163+17del | |
| NM_001386678.1:c.848+15_848+17del | NP_001373607.1:n.848+15_848+17del | |
| NM_001386679.1:c.866+15_866+17del | NP_001373608.1:n.866+15_866+17del | |
| NM_001386681.1:c.893+15_893+17del | NP_001373610.1:n.893+15_893+17del | |
| NM_001386682.1:c.893+15_893+17del | NP_001373611.1:n.893+15_893+17del | |
| NM_001386685.1:c.893+15_893+17del | NP_001373614.1:n.893+15_893+17del | |
| NM_001386686.1:c.893+15_893+17del | NP_001373615.1:n.893+15_893+17del | |
| NM_001386687.1:c.893+15_893+17del | NP_001373616.1:n.893+15_893+17del | |
| NM_001386688.1:c.893+15_893+17del | NP_001373617.1:n.893+15_893+17del | |
| NM_001386689.1:c.893+15_893+17del | NP_001373618.1:n.893+15_893+17del | |
| NM_001386690.1:c.893+15_893+17del | NP_001373619.1:n.893+15_893+17del | |
| NM_001386691.1:c.893+15_893+17del | NP_001373620.1:n.893+15_893+17del | |
| NR_170162.1:n.1138+15_1138+17del | ||
| NR_170163.1:n.1196+15_1196+17del |