Linked Data
ClinVar Variation Id:
1047946
ClinVar RCV Id:
RCV001352711
dbSNP Id:
rs2044233322
gnomAD v4:
3-48575476-CCT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.48575477_48575478del , CM000665.2:g.48575477_48575478del | GRCh38 |
| NC_000003.11:g.48612910_48612911del , CM000665.1:g.48612910_48612911del | GRCh37 |
| NC_000003.10:g.48587914_48587915del | NCBI36 |
| NG_007065.1:g.24775_24776del , LRG_286:g.24775_24776del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681320.1:c.6041_6042del MANE Select | ENSP00000506558.1:p.Gln2014ArgfsTer? | |
| ENST00000328333.12:c.6041_6042del | ENSP00000332371.8:p.Gln2014ArgfsTer? | |
| ENST00000487017.5:n.1958_1959del | ||
| NM_000094.3:c.6041_6042del , LRG_286t1:c.6041_6042del | NP_000085.1:p.Gln2014ArgfsTer? | |
| XM_011533336.1:c.6068_6069del | XP_011531638.1:p.Gln2023ArgfsTer? | |
| XM_011533337.1:c.6041_6042del | XP_011531639.1:p.Gln2014ArgfsTer? | |
| XM_011533338.1:c.6068_6069del | XP_011531640.1:p.Gln2023ArgfsTer? | |
| XM_011533339.1:c.6068_6069del | XP_011531641.1:p.Gln2023ArgfsTer? | |
| XM_011533340.1:c.6068_6069del | XP_011531642.1:p.Gln2023ArgfsTer? | |
| XM_011533341.1:c.6068_6069del | XP_011531643.1:p.Gln2023ArgfsTer? | |
| XM_011533342.1:c.6068_6069del | XP_011531644.1:p.Gln2023ArgfsTer? | |
| XR_940369.1:n.6104_6105del | ||
| XR_940370.1:n.6104_6105del | ||
| XR_940371.1:n.6104_6105del | ||
| XR_940372.1:n.6104_6105del | ||
| XR_940373.1:n.6104_6105del | ||
| XR_940374.1:n.6104_6105del | ||
| XR_940375.1:n.6104_6105del | ||
| XM_017005688.1:c.6041_6042del | XP_016861177.1:p.Gln2014ArgfsTer? | |
| XM_017005689.1:c.6041_6042del | XP_016861178.1:p.Gln2014ArgfsTer? | |
| XM_017005690.1:c.6041_6042del | XP_016861179.1:p.Gln2014ArgfsTer? | |
| XM_017005691.1:c.6041_6042del | XP_016861180.1:p.Gln2014ArgfsTer? | |
| XM_017005692.1:c.6041_6042del | XP_016861181.1:p.Gln2014ArgfsTer? | |
| XR_001740003.1:n.6077_6078del | ||
| XR_001740004.1:n.6077_6078del | ||
| XR_001740005.1:n.6077_6078del | ||
| XR_001740006.1:n.6077_6078del | ||
| XR_001740007.1:n.6077_6078del | ||
| XR_001740008.1:n.6077_6078del | ||
| XR_001740009.1:n.6077_6078del | ||
| NM_000094.4:c.6041_6042del MANE Select | NP_000085.1:p.Gln2014ArgfsTer? |