Linked Data
dbSNP Id:
rs34070681
gnomAD v2:
X-66862911-GCT-G
gnomAD v3:
X-67643069-GCT-G
gnomAD v4:
X-67643069-GCT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.67643071_67643072del , CM000685.2:g.67643071_67643072del | GRCh38 |
| NC_000023.10:g.66862913_66862914del , CM000685.1:g.66862913_66862914del | GRCh37 |
| NC_000023.9:g.66779638_66779639del | NCBI36 |
| NG_009014.2:g.104040_104041del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396043.4:c.1804-185_1804-184del | ENSP00000379358.4:n.1804-185_1804-184del | |
| ENST00000374690.9:c.1617-185_1617-184del MANE Select | ENSP00000363822.3:n.1617-185_1617-184del | |
| ENST00000396043.3:c.244-185_244-184del | ENSP00000379358.3:n.244-185_244-184del | |
| ENST00000396044.8:c.1617-185_1617-184del | ENSP00000379359.3:n.1617-185_1617-184del | |
| ENST00000612452.5:c.1617-185_1617-184del | ENSP00000484033.2:n.1617-185_1617-184del | |
| ENST00000374690.7:c.1617-185_1617-184del | ENSP00000363822.3:n.1617-185_1617-184del | |
| ENST00000396043.2:c.21-185_21-184del | ENSP00000379358.2:n.21-185_21-184del | |
| ENST00000396044.7:c.1617-185_1617-184del | ENSP00000379359.3:n.1617-185_1617-184del | |
| ENST00000504326.5:c.1617-185_1617-184del | ENSP00000421155.1:n.1617-185_1617-184del | |
| ENST00000513847.5:n.1944-185_1944-184del | ||
| ENST00000514029.5:c.1617-185_1617-184del | ENSP00000425199.1:n.1617-185_1617-184del | |
| ENST00000612010.4:c.1617-185_1617-184del | ENSP00000482407.1:n.1617-185_1617-184del | |
| ENST00000612452.4:c.1047-185_1047-184del | ENSP00000484033.1:n.1047-185_1047-184del | |
| ENST00000613054.2:c.1617-42870_1617-42869del | ENSP00000479013.1:n.1617-42870_1617-42869del | |
| NM_000044.3:c.1617-185_1617-184del | NP_000035.2:n.1617-185_1617-184del | |
| NM_001011645.2:c.21-185_21-184del | NP_001011645.1:n.21-185_21-184del | |
| NM_000044.4:c.1617-185_1617-184del | NP_000035.2:n.1617-185_1617-184del | |
| NM_001011645.3:c.21-185_21-184del | NP_001011645.1:n.21-185_21-184del | |
| NM_001348061.1:c.1617-185_1617-184del | NP_001334990.1:n.1617-185_1617-184del | |
| NM_001348063.1:c.1617-185_1617-184del | NP_001334992.1:n.1617-185_1617-184del | |
| NM_001348064.1:c.1617-42870_1617-42869del | NP_001334993.1:n.1617-42870_1617-42869del | |
| NM_000044.6:c.1617-185_1617-184del MANE Select | NP_000035.2:n.1617-185_1617-184del |