SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
Linked Data
ClinVar Variation Id:
188771
ClinVar RCV Id:
RCV000169094
dbSNP Id:
rs786204457
MyVariant Identifiers:
chr12:g.103306568_103306569delinsTT (hg19)
chr12:g.102912790_102912791delinsTT (hg38)
ERepo:
CA273936/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102912790_102912791delinsTT , CM000674.2:g.102912790_102912791delinsTT | GRCh38 |
| NC_000012.11:g.103306568_103306569delinsTT , CM000674.1:g.103306568_103306569delinsTT | GRCh37 |
| NC_000012.10:g.101830698_101830699delinsTT | NCBI36 |
| NG_008690.1:g.9812_9813delinsAA | |
| NG_008690.2:g.50620_50621delinsAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.168_168+1delinsAA | ||
| ENST00000307000.7:c.153_153+1delinsAA | ||
| ENST00000546844.1:c.168_168+1delinsAA | ||
| ENST00000548677.2:n.255_255+1delinsAA | ||
| ENST00000548928.1:n.90_90+1delinsAA | ||
| ENST00000549111.5:n.264_264+1delinsAA | ||
| ENST00000550978.6:c.152_152+1delinsAA | ||
| ENST00000551337.5:c.168_168+1delinsAA | ||
| ENST00000551988.5:n.257_257+1delinsAA | ||
| ENST00000553106.5:c.168_168+1delinsAA | ||
| ENST00000635500.1:n.136_136+1delinsAA | ||
| NM_000277.1:c.168_168+1delinsAA | ||
| XM_011538422.1:c.168_168+1delinsAA | ||
| NM_000277.2:c.168_168+1delinsAA | ||
| NM_001354304.1:c.168_168+1delinsAA | ||
| XM_017019370.2:c.168_168+1delinsAA | ||
| NM_000277.3:c.168_168+1delinsAA | ||
| NM_001354304.2:c.168_168+1delinsAA |