ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.48510099_48510100insGGTA , CM000664.2:g.48510099_48510100insGGTA | GRCh38 |
| NC_000002.11:g.48737238_48737239insGGTA , CM000664.1:g.48737238_48737239insGGTA | GRCh37 |
| NC_000002.10:g.48590742_48590743insGGTA | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000294952.13:c.2170_2171insGGTA MANE Select | ENSP00000294952.8:p.Ile724ArgfsTer8 | |
| ENST00000281394.8:c.2137_2138insGGTA | ENSP00000281394.4:p.Ile713ArgfsTer8 | |
| ENST00000294952.12:c.2170_2171insGGTA | ENSP00000294952.8:p.Ile724ArgfsTer8 | |
| ENST00000416913.5:c.*2044_*2045insGGTA | ENSP00000414130.1:n.*2044_*2045insGGTA | |
| ENST00000431614.5:c.*1994_*1995insGGTA | ENSP00000406283.1:n.*1994_*1995insGGTA | |
| ENST00000449090.6:c.2044_2045insGGTA | ENSP00000415696.2:p.Ile682ArgfsTer8 | |
| ENST00000476199.1:n.260_261insGGTA | ||
| NM_001135629.2:c.2170_2171insGGTA | NP_001129101.1:p.Ile724ArgfsTer8 | |
| NM_001193475.1:c.2044_2045insGGTA | NP_001180404.1:p.Ile682ArgfsTer8 | |
| NM_152994.4:c.2137_2138insGGTA | NP_694539.1:p.Ile713ArgfsTer8 | |
| NR_024188.2:n.2394_2395insGGTA | ||
| XM_017003301.1:c.1675_1676insGGTA | XP_016858790.1:p.Ile559ArgfsTer8 | |
| XM_017003302.1:c.1642_1643insGGTA | XP_016858791.1:p.Ile548ArgfsTer8 | |
| XR_001738608.1:n.2463_2464insGGTA | ||
| XR_001738609.1:n.2396_2397insGGTA | ||
| NM_001135629.3:c.2170_2171insGGTA MANE Select | NP_001129101.1:p.Ile724ArgfsTer8 | |
| NM_152994.5:c.2137_2138insGGTA | NP_694539.1:p.Ile713ArgfsTer8 | |
| NR_024188.3:n.2397_2398insGGTA | ||
| NM_001193475.2:c.2044_2045insGGTA | NP_001180404.1:p.Ile682ArgfsTer8 |