ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.77032312_77032313delinsTG , CM000677.2:g.77032312_77032313delinsTG | GRCh38 |
| NC_000015.9:g.77324653_77324654delinsTG , CM000677.1:g.77324653_77324654delinsTG | GRCh37 |
| NC_000015.8:g.75111708_75111709delinsTG | NCBI36 |
| NG_007526.1:g.42189_42190delinsTG , LRG_172:g.42189_42190delinsTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697622.1:n.1455_1456delinsTG | ||
| ENST00000697623.1:n.2175_2176delinsTG | ||
| ENST00000558012.6:c.756_757delinsTG MANE Select | ENSP00000452746.1:p.Arg253Gly | |
| ENST00000379595.7:c.756_757delinsTG | ENSP00000368914.3:p.Arg253Gly | |
| ENST00000557995.1:n.420_421delinsTG | ||
| ENST00000558012.5:c.756_757delinsTG | ENSP00000452746.1:p.Arg253Gly | |
| ENST00000559295.5:c.756_757delinsTG | ENSP00000452743.1:p.Arg253Gly | |
| ENST00000559785.5:c.951_952delinsTG | ENSP00000452986.1:p.Arg318Gly | |
| ENST00000559856.1:c.675_676delinsTG | ENSP00000453382.1:p.Arg226Gly | |
| ENST00000560223.5:c.*858_*859delinsTG | ENSP00000454118.1:n.*858_*859delinsTG | |
| ENST00000560377.5:n.997_998delinsTG | ||
| NM_003978.3:c.756_757delinsTG , LRG_172t1:c.756_757delinsTG | NP_003969.2:p.Arg253Gly | |
| XM_006720737.2:c.390_391delinsTG | XP_006720800.1:p.Arg131Gly | |
| XM_011522163.1:c.813_814delinsTG | XP_011520465.1:p.Arg272Gly | |
| XM_011522164.1:c.711_712delinsTG | XP_011520466.1:p.Arg238Gly | |
| XM_011522165.1:c.609_610delinsTG | XP_011520467.1:p.Arg204Gly | |
| XM_011522166.1:c.813_814delinsTG | XP_011520468.1:p.Arg272Gly | |
| XM_011522167.1:c.813_814delinsTG | XP_011520469.1:p.Arg272Gly | |
| XM_011522168.1:c.813_814delinsTG | XP_011520470.1:p.Arg272Gly | |
| XM_011522169.1:c.798+1034_798+1035delinsTG | XP_011520471.1:n.798+1034_798+1035delinsTG | |
| XM_011522170.1:c.371+2738_371+2739delinsTG | XP_011520472.1:n.371+2738_371+2739delinsTG | |
| XM_011522171.1:c.311+2738_311+2739delinsTG | XP_011520473.1:n.311+2738_311+2739delinsTG | |
| XM_011522172.1:c.311+2738_311+2739delinsTG | XP_011520474.1:n.311+2738_311+2739delinsTG | |
| XM_011522173.1:c.311+2738_311+2739delinsTG | XP_011520475.1:n.311+2738_311+2739delinsTG | |
| XR_931936.1:n.1263_1264delinsTG | ||
| XR_931937.1:n.1206_1207delinsTG | ||
| XR_931938.1:n.1263_1264delinsTG | ||
| XR_931939.1:n.1248+1034_1248+1035delinsTG | ||
| XR_931940.1:n.1069+2738_1069+2739delinsTG | ||
| NM_001321135.1:c.756_757delinsTG | NP_001308064.1:p.Arg253Gly | |
| NM_001321136.1:c.729_730delinsTG | NP_001308065.1:p.Arg244Gly | |
| NM_001321137.1:c.951_952delinsTG | NP_001308066.1:p.Arg318Gly | |
| NM_003978.4:c.756_757delinsTG | NP_003969.2:p.Arg253Gly | |
| NR_135552.1:n.1150+1034_1150+1035delinsTG | ||
| XM_006720737.3:c.390_391delinsTG | XP_006720800.1:p.Arg131Gly | |
| XM_011522163.2:c.813_814delinsTG | XP_011520465.1:p.Arg272Gly | |
| XM_011522165.2:c.609_610delinsTG | XP_011520467.1:p.Arg204Gly | |
| XM_011522166.2:c.813_814delinsTG | XP_011520468.1:p.Arg272Gly | |
| XM_011522167.2:c.813_814delinsTG | XP_011520469.1:p.Arg272Gly | |
| XM_011522168.3:c.813_814delinsTG | XP_011520470.1:p.Arg272Gly | |
| XM_011522169.2:c.798+1034_798+1035delinsTG | XP_011520471.1:n.798+1034_798+1035delinsTG | |
| XR_931936.2:n.1261_1262delinsTG | ||
| XR_931937.2:n.1204_1205delinsTG | ||
| XR_931938.2:n.1261_1262delinsTG | ||
| XR_931939.2:n.1246+1034_1246+1035delinsTG | ||
| NM_001321135.2:c.756_757delinsTG | NP_001308064.1:p.Arg253Gly | |
| NM_001321136.2:c.729_730delinsTG | NP_001308065.1:p.Arg244Gly | |
| NM_003978.5:c.756_757delinsTG MANE Select | NP_003969.2:p.Arg253Gly | |
| NR_135552.2:n.1109+1034_1109+1035delinsTG |