Linked Data
ClinVar Variation Id:
96170
ClinVar RCV Id:
RCV000082247
RCV000268851
RCV000307583
RCV000313246
RCV000364690
RCV000370292
RCV000827178
RCV001080740
RCV001579180
RCV001579181
RCV001579182
RCV001579183
dbSNP Id:
rs10717563
ExAC:
12:88483272 TA / T
gnomAD v2:
12-88483272-TA-T
gnomAD v3:
12-88089495-TA-T
gnomAD v4:
12-88089495-TA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.88089503del , CM000674.2:g.88089503del | GRCh38 |
| NC_000012.11:g.88483280del , CM000674.1:g.88483280del | GRCh37 |
| NC_000012.10:g.87007411del | NCBI36 |
| NG_008417.1:g.57721del | |
| NG_008417.2:g.57721del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000309041.12:c.3574-9del | ENSP00000308021.8:n.3574-9del | |
| ENST00000547691.8:c.858-9del | ||
| ENST00000552810.6:c.3574-9del MANE Select | ENSP00000448012.1:n.3574-9del | |
| ENST00000672414.2:c.*1745-9del | ENSP00000500729.1:n.*1745-9del | |
| ENST00000672647.1:n.1934-9del | ||
| ENST00000673058.2:c.3574-9del | ENSP00000500665.2:n.3574-9del | |
| ENST00000674971.1:c.3574-9del | ENSP00000502194.1:n.3574-9del | |
| ENST00000675089.1:c.399-9del | ENSP00000501582.1:n.399-9del | |
| ENST00000675230.1:c.3553-9del | ENSP00000502503.1:n.3553-9del | |
| ENST00000675408.1:c.3574-9del | ENSP00000502298.1:n.3574-9del | |
| ENST00000675476.1:c.4435-9del | ENSP00000502161.1:n.4435-9del | |
| ENST00000675628.1:n.3801-9del | ||
| ENST00000675794.1:c.*1745-9del | ENSP00000502841.1:n.*1745-9del | |
| ENST00000675833.1:c.4342-9del | ENSP00000502559.1:n.4342-9del | |
| ENST00000676074.1:c.3574-9del | ENSP00000502079.1:n.3574-9del | |
| ENST00000676181.1:n.2493del | ||
| ENST00000676363.1:n.9300-9del | ||
| ENST00000676448.1:c.*1487-9del | ENSP00000501987.1:n.*1487-9del | |
| ENST00000309041.11:c.3580-9del | ENSP00000308021.7:n.3580-9del | |
| ENST00000547691.6:c.754-9del | ENSP00000446905.1:n.754-9del | |
| ENST00000552810.5:c.3574-9del | ENSP00000448012.1:n.3574-9del | |
| NM_025114.3:c.3574-9del | NP_079390.3:n.3574-9del | |
| XM_011538756.1:c.4435-9del | XP_011537058.1:n.4435-9del | |
| XM_011538757.1:c.4435-9del | XP_011537059.1:n.4435-9del | |
| XM_011538758.1:c.4435-9del | XP_011537060.1:n.4435-9del | |
| XM_011538759.1:c.4435-9del | XP_011537061.1:n.4435-9del | |
| XM_011538760.1:c.4435-9del | XP_011537062.1:n.4435-9del | |
| XM_011538761.1:c.4435-9del | XP_011537063.1:n.4435-9del | |
| XM_011538762.1:c.3667-9del | XP_011537064.1:n.3667-9del | |
| XM_011538763.1:c.3574-9del | XP_011537065.1:n.3574-9del | |
| XM_011538764.1:c.4435-9del | XP_011537066.1:n.4435-9del | |
| XM_011538765.1:c.4435-9del | XP_011537067.1:n.4435-9del | |
| XM_011538766.1:c.2896-9del | XP_011537068.1:n.2896-9del | |
| XM_011538756.3:c.4435-9del | XP_011537058.1:n.4435-9del | |
| XM_011538757.3:c.4435-9del | XP_011537059.1:n.4435-9del | |
| XM_011538758.3:c.4435-9del | XP_011537060.1:n.4435-9del | |
| XM_011538759.2:c.4435-9del | XP_011537061.1:n.4435-9del | |
| XM_011538760.2:c.4435-9del | XP_011537062.1:n.4435-9del | |
| XM_011538761.2:c.4435-9del | XP_011537063.1:n.4435-9del | |
| XM_011538762.3:c.3667-9del | XP_011537064.1:n.3667-9del | |
| XM_011538763.3:c.3574-9del | XP_011537065.1:n.3574-9del | |
| XM_011538764.3:c.4435-9del | XP_011537066.1:n.4435-9del | |
| XM_011538765.3:c.4435-9del | XP_011537067.1:n.4435-9del | |
| XM_011538766.3:c.2896-9del | XP_011537068.1:n.2896-9del | |
| XM_017019980.2:c.4435-9del | XP_016875469.1:n.4435-9del | |
| XM_017019981.2:c.4435-9del | XP_016875470.1:n.4435-9del | |
| XM_017019982.1:c.4435-9del | XP_016875471.1:n.4435-9del | |
| XM_017019983.2:c.3553-9del | XP_016875472.1:n.3553-9del | |
| XR_001748869.1:n.4779-9del | ||
| XR_001748870.2:n.4779-9del | ||
| NM_025114.4:c.3574-9del MANE Select | NP_079390.3:n.3574-9del |