Linked Data
dbSNP Id:
rs768002859
gnomAD v2:
11-67377990-GAGGGCAAGC-G
gnomAD v4:
11-67610519-GAGGGCAAGC-G
MyVariant Identifiers:
chr11:g.67377991_67377999del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67610529_67610537del , CM000673.2:g.67610529_67610537del | GRCh38 |
| NC_000011.9:g.67378000_67378008del , CM000673.1:g.67378000_67378008del | GRCh37 |
| NC_000011.8:g.67134576_67134584del | NCBI36 |
| NG_013353.1:g.8678_8686del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322776.11:c.659_667del MANE Select | ENSP00000322450.6:p.Gln220_Lys222del | |
| ENST00000647561.1:c.659_667del | ENSP00000497587.1:p.Gln220_Lys222del | |
| ENST00000322776.10:c.659_667del | ENSP00000322450.6:p.Gln220_Lys222del | |
| ENST00000415352.6:c.638_646del | ENSP00000395368.2:p.Gln213_Lys215del | |
| ENST00000526169.1:n.401_409del | ||
| ENST00000526770.5:n.518_526del | ||
| ENST00000529927.5:c.632_640del | ENSP00000436766.1:p.Gln211_Lys213del | |
| ENST00000532244.5:c.356_364del | ENSP00000435202.1:p.Gln119_Lys121del | |
| ENST00000532303.5:c.356_364del | ENSP00000432015.1:p.Gln119_Lys121del | |
| ENST00000533919.5:c.137_145del | ENSP00000435199.1:p.Gln46_Lys48del | |
| NM_001166102.1:c.632_640del | NP_001159574.1:p.Gln211_Lys213del | |
| NM_007103.3:c.659_667del | NP_009034.2:p.Gln220_Lys222del | |
| NM_001166102.2:c.632_640del | NP_001159574.1:p.Gln211_Lys213del | |
| NM_007103.4:c.659_667del MANE Select | NP_009034.2:p.Gln220_Lys222del |