Linked Data
ClinVar Variation Id:
635146
ClinVar RCV Id:
RCV000788026
dbSNP Id:
rs770857344
ExAC:
6:43487880 TAA / T
gnomAD v2:
6-43487880-TAA-T
gnomAD v4:
6-43520142-TAA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.43520144_43520145del , CM000668.2:g.43520144_43520145del | GRCh38 |
| NC_000006.11:g.43487882_43487883del , CM000668.1:g.43487882_43487883del | GRCh37 |
| NC_000006.10:g.43595860_43595861del | NCBI36 |
| NG_028283.1:g.8106_8107del | |
| NG_028283.3:g.15443_15444del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000607635.2:c.461_462del | ENSP00000496683.1:p.Lys154ArgfsTer4 | |
| ENST00000642195.1:c.461_462del MANE Select | ENSP00000496044.1:p.Lys154ArgfsTer4 | |
| ENST00000643341.1:c.461_462del | ENSP00000496018.1:p.Lys154ArgfsTer4 | |
| ENST00000643799.1:c.461_462del | ENSP00000494529.1:p.Lys154ArgfsTer4 | |
| ENST00000645141.1:c.*72_*73del | ENSP00000496755.1:n.*72_*73del | |
| ENST00000646188.1:c.296_297del | ENSP00000496001.1:p.Lys99ArgfsTer4 | |
| ENST00000646433.1:c.461_462del | ENSP00000494368.1:p.Lys154ArgfsTer4 | |
| ENST00000646700.1:c.461_462del | ENSP00000495521.1:p.Lys154ArgfsTer4 | |
| ENST00000304004.7:c.461_462del | ENSP00000307212.3:p.Lys154ArgfsTer4 | |
| ENST00000372344.6:c.461_462del | ENSP00000361419.2:p.Lys154ArgfsTer4 | |
| ENST00000372389.7:c.461_462del | ENSP00000361465.3:p.Lys154ArgfsTer4 | |
| ENST00000423780.1:c.381-131_381-130del | ||
| ENST00000428025.6:c.296_297del | ENSP00000395401.2:p.Lys99ArgfsTer4 | |
| ENST00000455605.2:n.665_666del | ||
| ENST00000481352.6:n.744_745del | ||
| ENST00000488601.6:n.700_701del | ||
| NM_203290.2:c.461_462del | NP_976035.1:p.Lys154ArgfsTer4 | |
| XM_005249491.1:c.461_462del | XP_005249548.1:p.Lys154ArgfsTer4 | |
| XM_011515000.1:c.461_462del | XP_011513302.1:p.Lys154ArgfsTer4 | |
| NM_001318876.1:c.461_462del | NP_001305805.1:p.Lys154ArgfsTer4 | |
| NM_001363658.1:c.461_462del | NP_001350587.1:p.Lys154ArgfsTer4 | |
| NM_203290.3:c.461_462del | NP_976035.1:p.Lys154ArgfsTer4 | |
| NM_203290.4:c.461_462del MANE Select | NP_976035.1:p.Lys154ArgfsTer4 | |
| NM_001363658.2:c.461_462del | NP_001350587.1:p.Lys154ArgfsTer4 | |
| NM_001318876.2:c.461_462del | NP_001305805.1:p.Lys154ArgfsTer4 |