Linked Data
dbSNP Id:
rs2136733752
gnomAD v2:
12-103310687-G-GGCCGGGCGCGGTGGCTC
gnomAD v3:
12-102916909-G-GGCCGGGCGCGGTGGCTC
gnomAD v4:
12-102916909-G-GGCCGGGCGCGGTGGCTC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102916909_102916910insGCCGGGCGCGGTGGCTC , CM000674.2:g.102916909_102916910insGCCGGGCGCGGTGGCTC | GRCh38 |
| NC_000012.11:g.103310687_103310688insGCCGGGCGCGGTGGCTC , CM000674.1:g.103310687_103310688insGCCGGGCGCGGTGGCTC | GRCh37 |
| NC_000012.10:g.101834817_101834818insGCCGGGCGCGGTGGCTC | NCBI36 |
| NG_008690.1:g.5693_5694insGAGCCACCGCGCCCGGC | |
| NG_008690.2:g.46501_46502insGAGCCACCGCGCCCGGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.60+161_60+162insGAGCCACCGCGCCCGGC MANE Select | ENSP00000448059.1:n.60+161_60+162insGAGCCACCGCGCCCGGC | |
| ENST00000307000.7:c.-88+161_-88+162insGAGCCACCGCGCCCGGC | ENSP00000303500.2:n.-88+161_-88+162insGAGCCACCGCGCCCGGC | |
| ENST00000546844.1:c.60+161_60+162insGAGCCACCGCGCCCGGC | ENSP00000446658.1:n.60+161_60+162insGAGCCACCGCGCCCGGC | |
| ENST00000547319.1:n.371+161_371+162insGAGCCACCGCGCCCGGC | ||
| ENST00000549111.5:n.156+161_156+162insGAGCCACCGCGCCCGGC | ||
| ENST00000550978.6:c.44+161_44+162insGAGCCACCGCGCCCGGC | ||
| ENST00000551337.5:c.60+161_60+162insGAGCCACCGCGCCCGGC | ENSP00000447620.1:n.60+161_60+162insGAGCCACCGCGCCCGGC | |
| ENST00000551988.5:n.149+161_149+162insGAGCCACCGCGCCCGGC | ||
| ENST00000553106.5:c.60+161_60+162insGAGCCACCGCGCCCGGC | ENSP00000448059.1:n.60+161_60+162insGAGCCACCGCGCCCGGC | |
| ENST00000635500.1:n.29-4012_29-4011insGAGCCACCGCGCCCGGC | ||
| NM_000277.1:c.60+161_60+162insGAGCCACCGCGCCCGGC | NP_000268.1:n.60+161_60+162insGAGCCACCGCGCCCGGC | |
| XM_011538422.1:c.60+161_60+162insGAGCCACCGCGCCCGGC | XP_011536724.1:n.60+161_60+162insGAGCCACCGCGCCCGGC | |
| NM_000277.2:c.60+161_60+162insGAGCCACCGCGCCCGGC | NP_000268.1:n.60+161_60+162insGAGCCACCGCGCCCGGC | |
| NM_001354304.1:c.60+161_60+162insGAGCCACCGCGCCCGGC | NP_001341233.1:n.60+161_60+162insGAGCCACCGCGCCCGGC | |
| XM_017019370.2:c.60+161_60+162insGAGCCACCGCGCCCGGC | XP_016874859.1:n.60+161_60+162insGAGCCACCGCGCCCGGC | |
| NM_000277.3:c.60+161_60+162insGAGCCACCGCGCCCGGC MANE Select | NP_000268.1:n.60+161_60+162insGAGCCACCGCGCCCGGC | |
| NM_001354304.2:c.60+161_60+162insGAGCCACCGCGCCCGGC | NP_001341233.1:n.60+161_60+162insGAGCCACCGCGCCCGGC |