Linked Data
ClinVar Variation Id:
3644
dbSNP Id:
rs387906299
ExAC:
1:227174239 GCAC / G
gnomAD v2:
1-227174239-GCAC-G
gnomAD v3:
1-226986538-GCAC-G
gnomAD v4:
1-226986538-GCAC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.226986543_226986545del , CM000663.2:g.226986543_226986545del | GRCh38 |
| NC_000001.10:g.227174244_227174246del , CM000663.1:g.227174244_227174246del | GRCh37 |
| NC_000001.9:g.225240867_225240869del | NCBI36 |
| NG_012825.1:g.51307_51309del | |
| NG_012825.2:g.94008_94010del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000366777.4:c.1750_1752del MANE Select | ENSP00000355739.3:p.Thr584del | |
| ENST00000366779.6:c.*6477_*6479del | ENSP00000355741.2:n.*6477_*6479del | |
| ENST00000366777.3:c.1750_1752del | ENSP00000355739.3:p.Thr584del | |
| ENST00000366778.5:c.1594_1596del | ENSP00000355740.1:p.Thr532del | |
| ENST00000366779.5:c.1750_1752del | ENSP00000355741.1:p.Thr584del | |
| ENST00000478406.5:n.2612_2614del | ||
| ENST00000479852.1:n.937_939del | ||
| ENST00000485462.5:n.1140_1142del | ||
| NM_020247.4:c.1750_1752del | NP_064632.2:p.Thr584del | |
| XM_005273201.1:c.1750_1752del | XP_005273258.1:p.Thr584del | |
| XM_011544238.1:c.1750_1752del | XP_011542540.1:p.Thr584del | |
| XM_011544239.1:c.1750_1752del | XP_011542541.1:p.Thr584del | |
| XM_011544240.1:c.1750_1752del | XP_011542542.1:p.Thr584del | |
| XM_011544241.1:c.1750_1752del | XP_011542543.1:p.Thr584del | |
| XM_011544239.2:c.1750_1752del | XP_011542541.1:p.Thr584del | |
| XM_011544241.2:c.1750_1752del | XP_011542543.1:p.Thr584del | |
| XM_017001852.1:c.1750_1752del | XP_016857341.1:p.Thr584del | |
| XM_024448517.1:c.1750_1752del | XP_024304285.1:p.Thr584del | |
| XM_024448518.1:c.1750_1752del | XP_024304286.1:p.Thr584del | |
| NM_020247.5:c.1750_1752del MANE Select | NP_064632.2:p.Thr584del |