Linked Data
dbSNP Id:
rs760212907
gnomAD v2:
X-66765227-AAGAGACTAGCCCCAG-A
gnomAD v3:
X-67545385-AAGAGACTAGCCCCAG-A
gnomAD v4:
X-67545385-AAGAGACTAGCCCCAG-A
COSMIC:
COSM4993561
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.67545386_67545400del , CM000685.2:g.67545386_67545400del | GRCh38 |
| NC_000023.10:g.66765228_66765242del , CM000685.1:g.66765228_66765242del | GRCh37 |
| NC_000023.9:g.66681953_66681967del | NCBI36 |
| NG_009014.2:g.6355_6369del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396043.4:c.240_254del | ENSP00000379358.4:p.Glu81_Arg85del | |
| ENST00000374690.9:c.240_254del MANE Select | ENSP00000363822.3:p.Glu81_Arg85del | |
| ENST00000396044.8:c.240_254del | ENSP00000379359.3:p.Glu81_Arg85del | |
| ENST00000612452.5:c.240_254del | ENSP00000484033.2:p.Glu81_Arg85del | |
| ENST00000374690.7:c.240_254del | ENSP00000363822.3:p.Glu81_Arg85del | |
| ENST00000396044.7:c.240_254del | ENSP00000379359.3:p.Glu81_Arg85del | |
| ENST00000504326.5:c.240_254del | ENSP00000421155.1:p.Glu81_Arg85del | |
| ENST00000513847.5:n.567_581del | ||
| ENST00000514029.5:c.240_254del | ENSP00000425199.1:p.Glu81_Arg85del | |
| ENST00000612010.4:c.240_254del | ENSP00000482407.1:p.Glu81_Arg85del | |
| ENST00000612452.4:c.-331_-317del | ENSP00000484033.1:n.-331_-317del | |
| ENST00000613054.2:c.240_254del | ENSP00000479013.1:p.Glu81_Arg85del | |
| NM_000044.3:c.240_254del | NP_000035.2:p.Glu81_Arg85del | |
| NM_000044.4:c.240_254del | NP_000035.2:p.Glu81_Arg85del | |
| NM_001011645.3:c.-1544_-1530del | NP_001011645.1:n.-1544_-1530del | |
| NM_001348061.1:c.240_254del | NP_001334990.1:p.Glu81_Arg85del | |
| NM_001348063.1:c.240_254del | NP_001334992.1:p.Glu81_Arg85del | |
| NM_001348064.1:c.240_254del | NP_001334993.1:p.Glu81_Arg85del | |
| NM_000044.6:c.240_254del MANE Select | NP_000035.2:p.Glu81_Arg85del |