Linked Data
dbSNP Id:
rs1878246673
gnomAD v3:
12-102912711-C-CTTTTCATTGCA
gnomAD v4:
12-102912711-C-CTTTTCATTGCA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102912713_102912723dup , CM000674.2:g.102912713_102912723dup | GRCh38 |
| NC_000012.11:g.103306491_103306501dup , CM000674.1:g.103306491_103306501dup | GRCh37 |
| NC_000012.10:g.101830621_101830631dup | NCBI36 |
| NG_008690.1:g.9881_9891dup | |
| NG_008690.2:g.50689_50699dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.168+69_168+79dup MANE Select | ENSP00000448059.1:n.168+69_168+79dup | |
| ENST00000307000.7:c.153+69_153+79dup | ENSP00000303500.2:n.153+69_153+79dup | |
| ENST00000546844.1:c.168+69_168+79dup | ENSP00000446658.1:n.168+69_168+79dup | |
| ENST00000548677.2:n.255+69_255+79dup | ||
| ENST00000548928.1:n.90+69_90+79dup | ||
| ENST00000549111.5:n.264+69_264+79dup | ||
| ENST00000550978.6:c.152+69_152+79dup | ||
| ENST00000551337.5:c.168+69_168+79dup | ENSP00000447620.1:n.168+69_168+79dup | |
| ENST00000551988.5:n.257+69_257+79dup | ||
| ENST00000553106.5:c.168+69_168+79dup | ENSP00000448059.1:n.168+69_168+79dup | |
| ENST00000635500.1:n.136+69_136+79dup | ||
| NM_000277.1:c.168+69_168+79dup | NP_000268.1:n.168+69_168+79dup | |
| XM_011538422.1:c.168+69_168+79dup | XP_011536724.1:n.168+69_168+79dup | |
| NM_000277.2:c.168+69_168+79dup | NP_000268.1:n.168+69_168+79dup | |
| NM_001354304.1:c.168+69_168+79dup | NP_001341233.1:n.168+69_168+79dup | |
| XM_017019370.2:c.168+69_168+79dup | XP_016874859.1:n.168+69_168+79dup | |
| NM_000277.3:c.168+69_168+79dup MANE Select | NP_000268.1:n.168+69_168+79dup | |
| NM_001354304.2:c.168+69_168+79dup | NP_001341233.1:n.168+69_168+79dup |