Linked Data
ClinVar Variation Id:
854951
ClinVar RCV Id:
RCV001060103
dbSNP Id:
rs766427240
ExAC:
5:131940568 TACA / T
gnomAD v2:
5-131940568-TACA-T
gnomAD v4:
5-132604876-TACA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132604881_132604883del , CM000667.2:g.132604881_132604883del | GRCh38 |
| NC_000005.9:g.131940573_131940575del , CM000667.1:g.131940573_131940575del | GRCh37 |
| NC_000005.8:g.131968472_131968474del | NCBI36 |
| NG_021151.1:g.52958_52960del | |
| NG_021151.2:g.52905_52907del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378823.8:c.2600_2602del MANE Select | ENSP00000368100.4:p.Thr867del | |
| ENST00000638452.2:c.2303_2305del | ENSP00000492349.2:p.Thr768del | |
| ENST00000638504.1:n.2208_2210del | ||
| ENST00000638568.2:c.2303_2305del | ENSP00000491158.2:p.Thr768del | |
| ENST00000639899.1:n.3119_3121del | ||
| ENST00000640655.2:c.2303_2305del | ENSP00000491596.2:p.Thr768del | |
| ENST00000651160.1:c.*744_*746del | ENSP00000498829.1:n.*744_*746del | |
| ENST00000651723.1:c.*2683_*2685del | ENSP00000498237.1:n.*2683_*2685del | |
| ENST00000652016.1:c.*817_*819del | ENSP00000498267.1:n.*817_*819del | |
| ENST00000652485.1:c.2633_2635del | ENSP00000498973.1:p.Thr878del | |
| ENST00000378823.7:c.2600_2602del | ENSP00000368100.4:p.Thr867del | |
| ENST00000423956.5:c.*786_*788del | ENSP00000390971.1:n.*786_*788del | |
| ENST00000533482.5:c.*2226_*2228del | ENSP00000431225.1:n.*2226_*2228del | |
| NM_005732.3:c.2600_2602del | NP_005723.2:p.Thr867del | |
| NM_005732.4:c.2600_2602del MANE Select | NP_005723.2:p.Thr867del |