Linked Data
dbSNP Id:
rs1211213445
MyVariant Identifiers:
chr12:g.103288173_103288174insATAAAAAT (hg19)
chr12:g.102894395_102894396insATAAAAAT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102894397_102894404dup , CM000674.2:g.102894397_102894404dup | GRCh38 |
| NC_000012.11:g.103288175_103288182dup , CM000674.1:g.103288175_103288182dup | GRCh37 |
| NC_000012.10:g.101812305_101812312dup | NCBI36 |
| NG_008690.1:g.28200_28207dup | |
| NG_008690.2:g.69008_69015dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.352+332_352+339dup MANE Select | ENSP00000448059.1:n.352+332_352+339dup | |
| ENST00000307000.7:c.337+332_337+339dup | ENSP00000303500.2:n.337+332_337+339dup | |
| ENST00000548928.1:n.274+332_274+339dup | ||
| ENST00000549111.5:n.448+332_448+339dup | ||
| ENST00000550978.6:c.336+332_336+339dup | ||
| ENST00000551337.5:c.352+332_352+339dup | ENSP00000447620.1:n.352+332_352+339dup | |
| ENST00000551988.5:n.441+332_441+339dup | ||
| ENST00000553106.5:c.352+332_352+339dup | ENSP00000448059.1:n.352+332_352+339dup | |
| NM_000277.1:c.352+332_352+339dup | NP_000268.1:n.352+332_352+339dup | |
| XM_011538422.1:c.352+332_352+339dup | XP_011536724.1:n.352+332_352+339dup | |
| NM_000277.2:c.352+332_352+339dup | NP_000268.1:n.352+332_352+339dup | |
| NM_001354304.1:c.352+332_352+339dup | NP_001341233.1:n.352+332_352+339dup | |
| XM_017019370.2:c.352+332_352+339dup | XP_016874859.1:n.352+332_352+339dup | |
| NM_000277.3:c.352+332_352+339dup MANE Select | NP_000268.1:n.352+332_352+339dup | |
| NM_001354304.2:c.352+332_352+339dup | NP_001341233.1:n.352+332_352+339dup |