Linked Data
dbSNP Id:
rs1303026143
gnomAD v3:
12-102917199-C-CG
gnomAD v4:
12-102917199-C-CG
MyVariant Identifiers:
chr12:g.103310977_103310978insG (hg19)
chr12:g.102917199_102917200insG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102917200dup , CM000674.2:g.102917200dup | GRCh38 |
| NC_000012.11:g.103310978dup , CM000674.1:g.103310978dup | GRCh37 |
| NC_000012.10:g.101835108dup | NCBI36 |
| NG_008690.1:g.5403dup | |
| NG_008690.2:g.46211dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.-70dup MANE Select | ENSP00000448059.1:n.-70dup | |
| ENST00000307000.7:c.-217dup | ENSP00000303500.2:n.-217dup | |
| ENST00000546708.5:n.518dup | ||
| ENST00000546844.1:c.-70dup | ENSP00000446658.1:n.-70dup | |
| ENST00000547319.1:n.242dup | ||
| ENST00000549111.5:n.27dup | ||
| ENST00000551337.5:c.-70dup | ENSP00000447620.1:n.-70dup | |
| ENST00000551988.5:n.20dup | ||
| ENST00000553106.5:c.-70dup | ENSP00000448059.1:n.-70dup | |
| ENST00000635500.1:n.29-4302dup | ||
| NM_000277.1:c.-70dup | NP_000268.1:n.-70dup | |
| XM_011538422.1:c.-70dup | XP_011536724.1:n.-70dup | |
| NM_000277.2:c.-70dup | NP_000268.1:n.-70dup | |
| NM_001354304.1:c.-70dup | NP_001341233.1:n.-70dup | |
| XM_017019370.2:c.-70dup | XP_016874859.1:n.-70dup | |
| NM_000277.3:c.-70dup MANE Select | NP_000268.1:n.-70dup | |
| NM_001354304.2:c.-70dup | NP_001341233.1:n.-70dup |