ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.21842308_21842309delinsCA , CM000663.2:g.21842308_21842309delinsCA | GRCh38 |
| NC_000001.10:g.22168801_22168802delinsCA , CM000663.1:g.22168801_22168802delinsCA | GRCh37 |
| NC_000001.9:g.22041388_22041389delinsCA | NCBI36 |
| NG_016740.1:g.99949_99950delinsTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374695.8:c.8982_8983delinsTG MANE Select | ENSP00000363827.3:p.Ser2995Gly | |
| ENST00000374695.7:c.8982_8983delinsTG | ENSP00000363827.3:p.Ser2995Gly | |
| NM_001291860.1:c.8985_8986delinsTG | NP_001278789.1:p.Ser2996Gly | |
| NM_005529.6:c.8982_8983delinsTG | NP_005520.4:p.Ser2995Gly | |
| XM_006710594.2:c.9528_9529delinsTG | XP_006710657.1:p.Ser3177Gly | |
| XM_006710595.2:c.9480_9481delinsTG | XP_006710658.1:p.Ser3161Gly | |
| XM_006710596.2:c.9459_9460delinsTG | XP_006710659.1:p.Ser3154Gly | |
| XM_006710597.2:c.8982_8983delinsTG | XP_006710660.1:p.Ser2995Gly | |
| XM_011541317.1:c.9531_9532delinsTG | XP_011539619.1:p.Ser3178Gly | |
| XM_011541318.1:c.9531_9532delinsTG | XP_011539620.1:p.Ser3178Gly | |
| XM_011541319.1:c.9531_9532delinsTG | XP_011539621.1:p.Ser3178Gly | |
| XM_011541320.1:c.9252_9253delinsTG | XP_011539622.1:p.Ser3085Gly | |
| XM_011541321.1:c.9036_9037delinsTG | XP_011539623.1:p.Ser3013Gly | |
| XM_011541318.2:c.9531_9532delinsTG | XP_011539620.1:p.Ser3178Gly | |
| XM_017001120.1:c.9177_9178delinsTG | XP_016856609.1:p.Ser3060Gly | |
| XM_017001121.1:c.9126_9127delinsTG | XP_016856610.1:p.Ser3043Gly | |
| XM_017001122.1:c.9123_9124delinsTG | XP_016856611.1:p.Ser3042Gly | |
| NM_005529.7:c.8982_8983delinsTG MANE Select | NP_005520.4:p.Ser2995Gly | |
| NM_001291860.2:c.8985_8986delinsTG | NP_001278789.1:p.Ser2996Gly |