Linked Data
ClinVar Variation Id:
36916
ClinVar RCV Id:
RCV000030599
dbSNP Id:
rs398122821
gnomAD v4:
21-46125500-TTCGTCA-T
PubMed:
PMID:20729548
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46125504_46125509del , CM000683.2:g.46125504_46125509del | GRCh38 |
| NC_000021.8:g.47545418_47545423del , CM000683.1:g.47545418_47545423del | GRCh37 |
| NC_000021.7:g.46369846_46369851del | NCBI36 |
| NG_008675.1:g.32386_32391del , LRG_476:g.32386_32391del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000397763.6:c.1856_1861del MANE Plus Clinical | ENSP00000380870.1:p.Val619_Ile620del | |
| ENST00000300527.9:c.1856_1861del MANE Select | ENSP00000300527.4:p.Val619_Ile620del | |
| ENST00000409416.6:c.1856_1861del | ENSP00000387115.1:p.Val619_Ile620del | |
| ENST00000300527.8:c.1856_1861del | ENSP00000300527.4:p.Val619_Ile620del | |
| ENST00000310645.9:c.1856_1861del | ENSP00000312529.5:p.Val619_Ile620del | |
| ENST00000397763.5:c.1856_1861del | ENSP00000380870.1:p.Val619_Ile620del | |
| ENST00000409416.5:c.1856_1861del | ENSP00000387115.1:p.Val619_Ile620del | |
| ENST00000413758.1:c.527_532del | ENSP00000395751.1:p.Val176_Ile177del | |
| NM_001849.3:c.1856_1861del , LRG_476t1:c.1856_1861del | NP_001840.3:p.Val619_Ile620del | |
| NM_058174.2:c.1856_1861del | NP_478054.2:p.Val619_Ile620del | |
| NM_058175.2:c.1856_1861del | NP_478055.2:p.Val619_Ile620del | |
| XM_011529451.1:c.1856_1861del | XP_011527753.1:p.Val619_Ile620del | |
| XM_011529452.1:c.1856_1861del | XP_011527754.1:p.Val619_Ile620del | |
| XR_937438.1:n.1933_1938del | ||
| XR_937439.1:n.1933_1938del | ||
| XR_937438.2:n.1940_1945del | ||
| XR_937439.2:n.1940_1945del | ||
| NM_001849.4:c.1856_1861del MANE Select | NP_001840.3:p.Val619_Ile620del | |
| NM_058174.3:c.1856_1861del MANE Plus Clinical | NP_478054.2:p.Val619_Ile620del | |
| NM_058175.3:c.1856_1861del | NP_478055.2:p.Val619_Ile620del |