Linked Data
ClinVar Variation Id:
102531
dbSNP Id:
rs199475674
MyVariant Identifiers:
chr12:g.103306625_103306626insC (hg19)
chr12:g.102912847_102912848insC (hg38)
ERepo:
CA229354/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102912848dup , CM000674.2:g.102912848dup | GRCh38 |
| NC_000012.11:g.103306626dup , CM000674.1:g.103306626dup | GRCh37 |
| NC_000012.10:g.101830756dup | NCBI36 |
| NG_008690.1:g.9755dup | |
| NG_008690.2:g.50563dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553106.6:c.111dup MANE Select | ENSP00000448059.1:p.Ile38AspfsTer19 | |
| ENST00000307000.7:c.96dup | ENSP00000303500.2:p.Ile33AspfsTer19 | |
| ENST00000546844.1:c.111dup | ENSP00000446658.1:p.Ile38AspfsTer19 | |
| ENST00000548677.2:n.198dup | ||
| ENST00000548928.1:n.33dup | ||
| ENST00000549111.5:n.207dup | ||
| ENST00000550978.6:c.95dup | ||
| ENST00000551337.5:c.111dup | ENSP00000447620.1:p.Ile38AspfsTer19 | |
| ENST00000551988.5:n.200dup | ||
| ENST00000553106.5:c.111dup | ENSP00000448059.1:p.Ile38AspfsTer19 | |
| ENST00000635500.1:n.79dup | ||
| NM_000277.1:c.111dup | NP_000268.1:p.Ile38AspfsTer19 | |
| XM_011538422.1:c.111dup | XP_011536724.1:p.Ile38AspfsTer19 | |
| NM_000277.2:c.111dup | NP_000268.1:p.Ile38AspfsTer19 | |
| NM_001354304.1:c.111dup | NP_001341233.1:p.Ile38AspfsTer19 | |
| XM_017019370.2:c.111dup | XP_016874859.1:p.Ile38AspfsTer19 | |
| NM_000277.3:c.111dup MANE Select | NP_000268.1:p.Ile38AspfsTer19 | |
| NM_001354304.2:c.111dup | NP_001341233.1:p.Ile38AspfsTer19 |