Linked Data
ClinVar Variation Id:
676930
ClinVar RCV Id:
RCV000836400
dbSNP Id:
rs373737401
gnomAD v2:
14-65544941-CAG-C
gnomAD v3:
14-65078223-CAG-C
gnomAD v4:
14-65078223-CAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.65078226_65078227del , CM000676.2:g.65078226_65078227del | GRCh38 |
| NC_000014.8:g.65544944_65544945del , CM000676.1:g.65544944_65544945del | GRCh37 |
| NC_000014.7:g.64614697_64614698del | NCBI36 |
| NG_029830.1:g.29285_29286del , LRG_530:g.29285_29286del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000556892.6:c.-48-189_-48-188del | ENSP00000452206.2:n.-48-189_-48-188del | |
| ENST00000556979.6:c.172-189_172-188del | ENSP00000452378.1:n.172-189_172-188del | |
| ENST00000358664.9:c.172-189_172-188del MANE Select | ENSP00000351490.4:n.172-189_172-188del | |
| ENST00000651648.1:c.145-7856_145-7855del | ENSP00000498863.1:n.145-7856_145-7855del | |
| ENST00000284165.10:c.172-189_172-188del | ENSP00000284165.6:n.172-189_172-188del | |
| ENST00000341653.6:c.171+15483_171+15484del | ENSP00000342482.2:n.171+15483_171+15484del | |
| ENST00000358402.8:c.145-189_145-188del | ENSP00000351175.4:n.145-189_145-188del | |
| ENST00000358664.8:c.172-189_172-188del | ENSP00000351490.4:n.172-189_172-188del | |
| ENST00000394606.6:c.172-189_172-188del | ENSP00000378104.2:n.172-189_172-188del | |
| ENST00000553928.5:c.172-189_172-188del | ENSP00000451907.1:n.172-189_172-188del | |
| ENST00000553951.1:n.249-189_249-188del | ||
| ENST00000555419.5:c.64-189_64-188del | ENSP00000452405.1:n.64-189_64-188del | |
| ENST00000555667.5:c.145-189_145-188del | ENSP00000452286.1:n.145-189_145-188del | |
| ENST00000555932.5:c.37-1562_37-1561del | ENSP00000450763.1:n.37-1562_37-1561del | |
| ENST00000556443.5:c.145-189_145-188del | ENSP00000450818.1:n.145-189_145-188del | |
| ENST00000556892.5:c.-48-189_-48-188del | ENSP00000452206.1:n.-48-189_-48-188del | |
| ENST00000556979.5:c.172-189_172-188del | ENSP00000452378.1:n.172-189_172-188del | |
| ENST00000557277.5:c.-103-189_-103-188del | ENSP00000450955.1:n.-103-189_-103-188del | |
| ENST00000557746.5:c.145-189_145-188del | ENSP00000452197.1:n.145-189_145-188del | |
| ENST00000618858.4:c.172-189_172-188del | ENSP00000480127.1:n.172-189_172-188del | |
| NM_001271069.1:c.144+15483_144+15484del | NP_001257998.1:n.144+15483_144+15484del | |
| NM_002382.4:c.172-189_172-188del | NP_002373.3:n.172-189_172-188del | |
| NM_145112.2:c.145-189_145-188del | NP_660087.1:n.145-189_145-188del | |
| NM_145113.2:c.172-189_172-188del | NP_660088.1:n.172-189_172-188del | |
| NM_197957.3:c.171+15483_171+15484del | NP_932061.1:n.171+15483_171+15484del | |
| NR_073137.1:n.296-189_296-188del | ||
| XM_011536773.1:c.172-189_172-188del | XP_011535075.1:n.172-189_172-188del | |
| XR_429315.2:n.374-189_374-188del | ||
| XR_943450.1:n.374-189_374-188del | ||
| XR_943451.1:n.374-189_374-188del | ||
| XR_943452.1:n.336-189_336-188del | ||
| NM_001320415.1:c.-103-189_-103-188del | NP_001307344.1:n.-103-189_-103-188del | |
| XM_011536773.3:c.172-189_172-188del | XP_011535075.1:n.172-189_172-188del | |
| XM_017021312.2:c.-103-189_-103-188del | XP_016876801.1:n.-103-189_-103-188del | |
| XM_017021313.1:c.-103-189_-103-188del | XP_016876802.1:n.-103-189_-103-188del | |
| XR_001750326.2:n.335-189_335-188del | ||
| XR_001750327.2:n.335-189_335-188del | ||
| XR_002957553.1:n.365-189_365-188del | ||
| XR_943450.3:n.374-189_374-188del | ||
| XR_943451.3:n.374-189_374-188del | ||
| XR_943452.3:n.335-189_335-188del | ||
| NM_001320415.2:c.-103-189_-103-188del | NP_001307344.1:n.-103-189_-103-188del | |
| NM_002382.5:c.172-189_172-188del MANE Select | NP_002373.3:n.172-189_172-188del | |
| NM_145112.3:c.145-189_145-188del | NP_660087.1:n.145-189_145-188del | |
| NM_145113.3:c.172-189_172-188del | NP_660088.1:n.172-189_172-188del | |
| NM_001271069.2:c.144+15483_144+15484del | NP_001257998.1:n.144+15483_144+15484del | |
| NM_197957.4:c.171+15483_171+15484del | NP_932061.1:n.171+15483_171+15484del |