Linked Data
ClinVar Variation Id:
238193
ClinVar RCV Id:
RCV000233908
dbSNP Id:
rs878854145
gnomAD v2:
12-13717081-TGGA-T
gnomAD v3:
12-13564147-TGGA-T
gnomAD v4:
12-13564147-TGGA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.13564153_13564155del , CM000674.2:g.13564153_13564155del | GRCh38 |
| NC_000012.11:g.13717087_13717089del , CM000674.1:g.13717087_13717089del | GRCh37 |
| NC_000012.10:g.13608354_13608356del | NCBI36 |
| NG_031854.1:g.420939_420941del | |
| NG_031854.2:g.422863_422865del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000609686.4:c.3088_3090del MANE Select | ENSP00000477455.1:p.Ser1030del | |
| ENST00000637214.1:c.69+44453_69+44455del | ENSP00000489997.1:n.69+44453_69+44455del | |
| ENST00000609686.3:c.3088_3090del | ENSP00000477455.1:p.Ser1030del | |
| ENST00000628166.1:n.1348_1350del | ||
| NM_000834.3:c.3088_3090del | NP_000825.2:p.Ser1030del | |
| XM_005253351.2:c.874_876del | XP_005253408.1:p.Ser292del | |
| XM_011520628.1:c.3088_3090del | XP_011518930.1:p.Ser1030del | |
| XM_011520629.1:c.3088_3090del | XP_011518931.1:p.Ser1030del | |
| XM_011520630.1:c.3088_3090del | XP_011518932.1:p.Ser1030del | |
| NM_000834.4:c.3088_3090del | NP_000825.2:p.Ser1030del | |
| XM_005253351.3:c.874_876del | XP_005253408.1:p.Ser292del | |
| XM_011520628.2:c.3088_3090del | XP_011518930.1:p.Ser1030del | |
| XM_011520629.2:c.3088_3090del | XP_011518931.1:p.Ser1030del | |
| XM_017019219.2:c.3088_3090del | XP_016874708.1:p.Ser1030del | |
| NM_000834.5:c.3088_3090del MANE Select | NP_000825.2:p.Ser1030del |