Linked Data
dbSNP Id:
rs1436480169
gnomAD v2:
19-1056240-AAGGTGGGAACTGGGGGGGC-A
gnomAD v4:
19-1056241-AAGGTGGGAACTGGGGGGGC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1056249_1056267del , CM000681.2:g.1056249_1056267del | GRCh38 |
| NC_000019.9:g.1056248_1056266del , CM000681.1:g.1056248_1056266del | GRCh37 |
| NC_000019.8:g.1007248_1007266del | NCBI36 |
| NG_046909.1:g.21147_21165del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263094.11:c.4416+6_4416+24del | ||
| ENST00000433129.6:n.4716+6_4716+24del | ||
| ENST00000435683.7:c.1901+6_1901+24del | ||
| ENST00000673773.1:n.259+6_259+24del | ||
| ENST00000263094.10:c.4416+6_4416+24del | ||
| ENST00000433129.5:c.4416+6_4416+24del | ||
| ENST00000435683.6:c.4002+6_4002+24del | ||
| NM_019112.3:c.4416+6_4416+24del | ||
| XM_006722616.1:c.4416+6_4416+24del | ||
| XM_006722617.2:c.4416+6_4416+24del | ||
| XM_006722618.2:c.2073+6_2073+24del | ||
| XM_011527628.1:c.4416+6_4416+24del | ||
| XM_011527629.1:c.4389+6_4389+24del | ||
| XM_011527630.1:c.4416+6_4416+24del | ||
| XM_011527631.1:c.4416+6_4416+24del | ||
| XM_011527632.1:c.3960+6_3960+24del | ||
| XM_011527633.1:c.4416+6_4416+24del | ||
| XM_011527634.1:c.4416+6_4416+24del | ||
| XM_011527635.1:c.4416+6_4416+24del | ||
| XM_011527636.1:c.2073+6_2073+24del | ||
| XR_936148.1:n.4634+6_4634+24del | ||
| XR_936149.1:n.4634+6_4634+24del | ||
| XR_936150.1:n.4634+6_4634+24del | ||
| XR_936151.1:n.4634+6_4634+24del | ||
| XR_936152.1:n.4634+6_4634+24del | ||
| XR_936153.1:n.4634+6_4634+24del | ||
| XR_936154.1:n.4634+6_4634+24del | ||
| XM_011527633.2:c.4416+6_4416+24del | ||
| XM_017026143.1:c.4416+6_4416+24del | ||
| XM_024451315.1:c.4416+6_4416+24del | ||
| XM_024451316.1:c.4416+6_4416+24del | ||
| XM_024451317.1:c.4389+6_4389+24del | ||
| XM_024451318.1:c.4416+6_4416+24del | ||
| XM_024451319.1:c.4416+6_4416+24del | ||
| XM_024451320.1:c.4161+6_4161+24del | ||
| XM_024451321.1:c.4416+6_4416+24del | ||
| XM_024451322.1:c.3960+6_3960+24del | ||
| XM_024451323.1:c.4416+6_4416+24del | ||
| XM_024451324.1:c.2073+6_2073+24del | ||
| XM_024451325.1:c.2073+6_2073+24del | ||
| XR_001753585.1:n.4634+6_4634+24del | ||
| XR_001753586.1:n.4634+6_4634+24del | ||
| XR_002958240.1:n.4634+6_4634+24del | ||
| XR_002958241.1:n.4634+6_4634+24del | ||
| XR_002958242.1:n.4634+6_4634+24del | ||
| NM_019112.4:c.4416+6_4416+24del |