Linked Data
ClinVar Variation Id:
421302
ClinVar RCV Id:
RCV000478292
dbSNP Id:
rs1064795044
MyVariant Identifiers:
chr10:g.73569624_73569625insTGGCTGTA (hg19)
chr10:g.71809867_71809868insTGGCTGTA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71809867_71809868insTGGCTGTA , CM000672.2:g.71809867_71809868insTGGCTGTA | GRCh38 |
| NC_000010.10:g.73569624_73569625insTGGCTGTA , CM000672.1:g.73569624_73569625insTGGCTGTA | GRCh37 |
| NC_000010.9:g.73239630_73239631insTGGCTGTA | NCBI36 |
| NG_008835.1:g.417921_417922insTGGCTGTA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000224721.12:c.8770_8771insTGGCTGTA MANE Select | ENSP00000224721.9:p.Ser2924MetfsTer31 | |
| ENST00000642965.1:c.2703_2704insTGGCTGTA | ENSP00000495222.1:n.2703_2704insTGGCTGTA | |
| ENST00000647092.1:c.2367_2368insTGGCTGTA | ENSP00000495176.1:n.2367_2368insTGGCTGTA | |
| ENST00000224721.10:c.8785_8786insTGGCTGTA | ENSP00000224721.8:p.Ser2929MetfsTer31 | |
| ENST00000398788.4:c.2050_2051insTGGCTGTA | ENSP00000381768.3:p.Ser684MetfsTer31 | |
| ENST00000475158.1:n.2306_2307insTGGCTGTA | ||
| ENST00000619887.4:c.2050_2051insTGGCTGTA | ENSP00000478374.1:p.Ser684MetfsTer31 | |
| ENST00000622827.4:c.8770_8771insTGGCTGTA | ENSP00000483211.1:p.Ser2924MetfsTer31 | |
| NM_001171933.1:c.2050_2051insTGGCTGTA | NP_001165404.1:p.Ser684MetfsTer31 | |
| NM_001171934.1:c.2050_2051insTGGCTGTA | NP_001165405.1:p.Ser684MetfsTer31 | |
| NM_022124.5:c.8770_8771insTGGCTGTA | NP_071407.4:p.Ser2924MetfsTer31 | |
| XM_006717940.2:c.8965_8966insTGGCTGTA | XP_006718003.1:p.Ser2989MetfsTer31 | |
| XM_006717942.2:c.8899_8900insTGGCTGTA | XP_006718005.1:p.Ser2967MetfsTer31 | |
| XM_011540039.1:c.8962_8963insTGGCTGTA | XP_011538341.1:p.Ser2988MetfsTer31 | |
| XM_011540040.1:c.8959_8960insTGGCTGTA | XP_011538342.1:p.Ser2987MetfsTer31 | |
| XM_011540041.1:c.8905_8906insTGGCTGTA | XP_011538343.1:p.Ser2969MetfsTer31 | |
| XM_011540042.1:c.8875_8876insTGGCTGTA | XP_011538344.1:p.Ser2959MetfsTer31 | |
| XM_011540043.1:c.8965_8966insTGGCTGTA | XP_011538345.1:p.Ser2989MetfsTer31 | |
| XM_011540044.1:c.8830_8831insTGGCTGTA | XP_011538346.1:p.Ser2944MetfsTer31 | |
| XM_011540045.1:c.8965_8966insTGGCTGTA | XP_011538347.1:p.Ser2989MetfsTer31 | |
| XM_011540046.1:c.8425_8426insTGGCTGTA | XP_011538348.1:p.Ser2809MetfsTer31 | |
| XM_011540047.1:c.7783_7784insTGGCTGTA | XP_011538349.1:p.Ser2595MetfsTer31 | |
| XM_011540052.1:c.5293_5294insTGGCTGTA | XP_011538354.1:p.Ser1765MetfsTer31 | |
| NM_022124.6:c.8770_8771insTGGCTGTA MANE Select | NP_071407.4:p.Ser2924MetfsTer31 |