ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64804546_64804547delinsCA , CM000673.2:g.64804546_64804547delinsCA | GRCh38 |
| NC_000011.9:g.64572018_64572019delinsCA , CM000673.1:g.64572018_64572019delinsCA | GRCh37 |
| NC_000011.8:g.64328594_64328595delinsCA | NCBI36 |
| NG_033040.1:g.3695_3696delinsTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377313.7:c.1635_1636delinsTG | ENSP00000366530.1:p.Thr546Ala | |
| ENST00000394374.8:c.*928_*929delinsTG | ENSP00000377899.4:n.*928_*929delinsTG | |
| ENST00000394376.7:c.1611_1612delinsTG | ENSP00000377901.3:p.Thr538Ala | |
| ENST00000413626.2:c.1620_1621delinsTG | ENSP00000411218.2:p.Thr541Ala | |
| ENST00000424912.2:c.1620_1621delinsTG | ENSP00000388016.2:p.Thr541Ala | |
| ENST00000429702.6:c.1620_1621delinsTG | ENSP00000402752.2:p.Thr541Ala | |
| ENST00000672079.2:c.*716_*717delinsTG | ENSP00000500905.2:n.*716_*717delinsTG | |
| ENST00000710881.1:c.1635_1636delinsTG | ENSP00000518530.1:p.Thr546Ala | |
| ENST00000394376.6:c.962_963delinsTG | ||
| ENST00000478548.3:n.2113_2114delinsTG | ||
| ENST00000671939.2:n.1582_1583delinsTG | ||
| ENST00000671965.2:n.2002_2003delinsTG | ||
| ENST00000312049.11:c.1620_1621delinsTG | ENSP00000308975.6:p.Thr541Ala | |
| ENST00000315422.9:c.1620_1621delinsTG | ENSP00000323747.4:p.Thr541Ala | |
| ENST00000377313.6:c.1635_1636delinsTG | ENSP00000366530.1:p.Thr546Ala | |
| ENST00000440873.6:c.1620_1621delinsTG | ENSP00000413944.2:p.Thr541Ala | |
| ENST00000450708.7:c.1620_1621delinsTG MANE Select | ENSP00000394933.3:p.Thr541Ala | |
| ENST00000478548.2:n.2121_2122delinsTG | ||
| ENST00000671939.1:n.1897_1898delinsTG | ||
| ENST00000672304.1:c.1746_1747delinsTG | ENSP00000500585.1:p.Thr583Ala | |
| ENST00000312049.10:c.1620_1621delinsTG | ENSP00000308975.6:p.Thr541Ala | |
| ENST00000315422.8:c.1620_1621delinsTG | ENSP00000323747.4:p.Thr541Ala | |
| ENST00000337652.5:c.1635_1636delinsTG | ENSP00000337088.1:p.Thr546Ala | |
| ENST00000377313.5:c.1635_1636delinsTG | ENSP00000366530.1:p.Thr546Ala | |
| ENST00000377316.6:c.1455_1456delinsTG | ENSP00000366533.1:p.Thr486Ala | |
| ENST00000377321.5:c.1515_1516delinsTG | ENSP00000366538.1:p.Thr506Ala | |
| ENST00000377326.7:c.1620_1621delinsTG | ENSP00000366543.3:p.Thr541Ala | |
| ENST00000394374.6:c.1635_1636delinsTG | ENSP00000377899.2:p.Thr546Ala | |
| ENST00000394376.5:c.1635_1636delinsTG | ENSP00000377901.1:p.Thr546Ala | |
| ENST00000478548.1:n.1169_1170delinsTG | ||
| XM_005274001.3:c.1620_1621delinsTG | XP_005274058.1:p.Thr541Ala | |
| XM_011545040.1:c.1746_1747delinsTG | XP_011543342.1:p.Thr583Ala | |
| XM_011545041.1:c.1746_1747delinsTG | XP_011543343.1:p.Thr583Ala | |
| XM_011545042.1:c.1746_1747delinsTG | XP_011543344.1:p.Thr583Ala | |
| XM_005274001.4:c.1620_1621delinsTG | XP_005274058.1:p.Thr541Ala | |
| XM_011545041.2:c.1746_1747delinsTG | XP_011543343.1:p.Thr583Ala | |
| XM_011545042.3:c.1746_1747delinsTG | XP_011543344.1:p.Thr583Ala | |
| XM_017017765.1:c.1761_1762delinsTG | XP_016873254.1:p.Thr588Ala | |
| XM_017017766.1:c.1761_1762delinsTG | XP_016873255.1:p.Thr588Ala | |
| XM_017017767.2:c.1761_1762delinsTG | XP_016873256.1:p.Thr588Ala | |
| XM_017017768.1:c.1761_1762delinsTG | XP_016873257.1:p.Thr588Ala | |
| XM_017017769.1:c.1620_1621delinsTG | XP_016873258.1:p.Thr541Ala | |
| XM_017017770.2:c.1620_1621delinsTG | XP_016873259.1:p.Thr541Ala | |
| NM_001370259.2:c.1620_1621delinsTG MANE Select | NP_001357188.2:p.Thr541Ala | |
| NM_000244.4:c.1635_1636delinsTG | NP_000235.3:p.Thr546Ala | |
| NM_001370251.2:c.1746_1747delinsTG | NP_001357180.2:p.Thr583Ala | |
| NM_001370260.2:c.1620_1621delinsTG | NP_001357189.2:p.Thr541Ala | |
| NM_001370261.2:c.1620_1621delinsTG | NP_001357190.2:p.Thr541Ala | |
| NM_001370262.2:c.1515_1516delinsTG | NP_001357191.2:p.Thr506Ala | |
| NM_001370263.2:c.1515_1516delinsTG | NP_001357192.2:p.Thr506Ala | |
| NM_130799.3:c.1620_1621delinsTG | NP_570711.2:p.Thr541Ala | |
| NM_130800.3:c.1635_1636delinsTG | NP_570712.2:p.Thr546Ala | |
| NM_130801.3:c.1635_1636delinsTG | NP_570713.2:p.Thr546Ala | |
| NM_130802.3:c.1635_1636delinsTG | NP_570714.2:p.Thr546Ala | |
| NM_130803.3:c.1635_1636delinsTG | NP_570715.2:p.Thr546Ala | |
| NM_130804.3:c.1635_1636delinsTG | NP_570716.2:p.Thr546Ala |