Canonical Allele Identifier:
CA632429697
Gene:
Linked Data
dbSNP Id:
rs1268057943
gnomAD v2:
19-20329164-TA-T
gnomAD v3:
19-20218355-TA-T
gnomAD v4:
19-20218355-TA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.20218361del , CM000681.2:g.20218361del | GRCh38 |
| NC_000019.9:g.20329170del , CM000681.1:g.20329170del | GRCh37 |
| NC_000019.8:g.20190170del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_936388.1:n.619-1040del | ||
| XR_936389.1:n.502-1040del | ||
| XR_936390.1:n.511-1040del | ||
| XR_936391.1:n.514-1040del | ||
| XR_936392.1:n.514-1040del | ||
| XR_936394.1:n.41-373del | ||
| XR_001754063.2:n.1506-1040del | ||
| XR_001754064.2:n.138-1040del | ||
| XR_001754066.1:n.3912-1040del | ||
| XR_001754067.1:n.3912-1040del | ||
| XR_001754068.1:n.3912-1040del | ||
| XR_936394.2:n.41-373del | ||
| XR_936406.2:n.1411-1040del |