Linked Data
ClinVar Variation Id:
217288
ClinVar RCV Id:
RCV000240647
dbSNP Id:
rs886037756
MyVariant Identifiers:
chr10:g.102509516_102509517insGTGAACC (hg19)
chr10:g.100749759_100749760insGTGAACC (hg38)
PubMed:
PMID:26571382
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.100749760_100749766dup , CM000672.2:g.100749760_100749766dup | GRCh38 |
| NC_000010.10:g.102509517_102509523dup , CM000672.1:g.102509517_102509523dup | GRCh37 |
| NC_000010.9:g.102499507_102499513dup | NCBI36 |
| NG_008680.1:g.9050_9056dup | |
| NG_008680.2:g.19052_19058dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000707078.1:c.151_157dup | ENSP00000516729.1:p.Gln53ArgfsTer? | |
| ENST00000707079.1:c.58_64dup | ENSP00000516730.1:p.Gln22ArgfsTer? | |
| ENST00000355243.8:c.58_64dup MANE Select | ENSP00000347385.3:p.Gln22ArgfsTer? | |
| ENST00000427256.6:c.58_64dup | ENSP00000398652.2:p.Gln22ArgfsTer? | |
| ENST00000679374.1:c.40_46dup | ENSP00000506041.1:p.Gln16ArgfsTer? | |
| ENST00000355243.7:c.58_64dup | ENSP00000347385.2:p.Gln22ArgfsTer? | |
| ENST00000361791.7:c.55_61dup | ENSP00000355069.4:p.Gln21ArgfsTer? | |
| ENST00000370296.6:c.58_64dup | ENSP00000359319.3:p.Gln22ArgfsTer? | |
| ENST00000427256.5:c.58_64dup | ENSP00000398652.1:p.Gln22ArgfsTer? | |
| ENST00000428433.5:c.58_64dup | ENSP00000396259.1:p.Gln22ArgfsTer? | |
| ENST00000483202.2:n.1060_1066dup | ||
| ENST00000553492.5:n.131+14027_131+14033dup | ||
| ENST00000554172.2:c.70_76dup | ENSP00000452489.2:p.Gln26ArgfsTer? | |
| ENST00000554363.2:n.125+3457_125+3463dup | ||
| NM_000278.3:c.58_64dup | NP_000269.2:p.Gln22ArgfsTer? | |
| NM_001304569.1:c.151_157dup | NP_001291498.1:p.Gln53ArgfsTer? | |
| NM_003987.3:c.58_64dup | NP_003978.2:p.Gln22ArgfsTer? | |
| NM_003988.3:c.58_64dup | NP_003979.2:p.Gln22ArgfsTer? | |
| NM_003989.3:c.58_64dup | NP_003980.2:p.Gln22ArgfsTer? | |
| NM_003990.3:c.58_64dup | NP_003981.2:p.Gln22ArgfsTer? | |
| NM_000278.4:c.58_64dup | NP_000269.3:p.Gln22ArgfsTer? | |
| NM_003987.4:c.58_64dup | NP_003978.3:p.Gln22ArgfsTer? | |
| NM_003988.4:c.58_64dup | NP_003979.2:p.Gln22ArgfsTer? | |
| NM_003989.4:c.58_64dup | NP_003980.3:p.Gln22ArgfsTer? | |
| NM_003990.4:c.58_64dup | NP_003981.3:p.Gln22ArgfsTer? | |
| NM_000278.5:c.58_64dup MANE Select | NP_000269.3:p.Gln22ArgfsTer? | |
| NM_001304569.2:c.151_157dup | NP_001291498.1:p.Gln53ArgfsTer? | |
| NM_003987.5:c.58_64dup | NP_003978.3:p.Gln22ArgfsTer? | |
| NM_003988.5:c.58_64dup | NP_003979.2:p.Gln22ArgfsTer? | |
| NM_003989.5:c.58_64dup | NP_003980.3:p.Gln22ArgfsTer? | |
| NM_003990.5:c.58_64dup | NP_003981.3:p.Gln22ArgfsTer? |