Linked Data
ClinVar Variation Id:
219003
dbSNP Id:
rs36013132
MyVariant Identifiers:
chr12:g.110011229_110011230delinsTT (hg19)
chr12:g.109573424_109573425delinsTT (hg38)
PubMed:
PMID:12471062
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109573424_109573425delinsTT , CM000674.2:g.109573424_109573425delinsTT | GRCh38 |
| NC_000012.11:g.110011229_110011230delinsTT , CM000674.1:g.110011229_110011230delinsTT | GRCh37 |
| NC_000012.10:g.108495612_108495613delinsTT | NCBI36 |
| NG_007096.1:g.5073_5074delinsAA | |
| NG_007702.1:g.4730_4731delinsTT , LRG_156:g.4730_4731delinsTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000546277.6:c.-162_-161delinsTT (MVK) | ENSP00000438153.2:n.-162_-161delinsTT | |
| ENST00000545712.7:c.56_57delinsAA (MMAB) MANE Select | ENSP00000445920.1:p.Arg19Gln | |
| ENST00000420167.6:c.56_57delinsAA (MMAB) | ENSP00000416136.2:p.Arg19Gln | |
| ENST00000503497.7:c.56_57delinsAA (MMAB) | ENSP00000474881.1:p.Arg19Gln | |
| ENST00000535044.1:n.84_85delinsTT (MVK) | ||
| ENST00000536760.1:n.59_60delinsAA (MMAB) | ||
| ENST00000537236.2:c.56_57delinsAA (MMAB) | ENSP00000483818.1:p.Arg19Gln | |
| ENST00000537496.5:c.56_57delinsAA (MMAB) | ENSP00000444793.1:p.Arg19Gln | |
| ENST00000539335.5:c.-153_-152delinsTT (MVK) | ENSP00000440379.1:n.-153_-152delinsTT | |
| ENST00000540016.5:c.56_57delinsAA (MMAB) | ENSP00000474582.1:p.Arg19Gln | |
| ENST00000541763.6:c.56_57delinsAA (MMAB) | ENSP00000474981.1:p.Arg19Gln | |
| ENST00000542390.5:n.83_84delinsAA (MMAB) | ||
| ENST00000544051.5:c.56_57delinsAA (MMAB) | ENSP00000438079.1:p.Arg19Gln | |
| ENST00000545712.6:c.56_57delinsAA (MMAB) | ENSP00000445920.1:p.Arg19Gln | |
| ENST00000546277.5:c.-162_-161delinsTT (MVK) | ENSP00000438153.1:n.-162_-161delinsTT | |
| NM_052845.3:c.56_57delinsAA (MMAB) | NP_443077.1:p.Arg19Gln | |
| NR_038118.1:n.129_130delinsAA (MMAB) | ||
| XM_011538372.1:c.-162_-161delinsTT (MVK) | XP_011536674.1:n.-162_-161delinsTT | |
| XM_024448961.1:c.56_57delinsAA (MMAB) | XP_024304729.1:p.Arg19Gln | |
| NM_052845.4:c.56_57delinsAA (MMAB) MANE Select | NP_443077.1:p.Arg19Gln | |
| NR_038118.2:n.80_81delinsAA (MMAB) |