Linked Data
ClinVar Variation Id:
1244237
ClinVar RCV Id:
RCV001648502
dbSNP Id:
rs553754986
ExAC:
17:56649370 TCAGA / T
gnomAD v2:
17-56649370-TCAGA-T
gnomAD v3:
17-58572009-TCAGA-T
gnomAD v4:
17-58572009-TCAGA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58572012_58572015del , CM000679.2:g.58572012_58572015del | GRCh38 |
| NC_000017.10:g.56649373_56649376del , CM000679.1:g.56649373_56649376del | GRCh37 |
| NC_000017.9:g.54004372_54004375del | NCBI36 |
| NG_047169.1:g.125067_125070del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349033.10:c.3625_3628del MANE Select | ENSP00000268910.8:p.Ser1209MetfsTer4 | |
| ENST00000240361.12:c.3763_3766del | ENSP00000240361.8:p.Ser1255MetfsTer4 | |
| ENST00000349033.9:c.3625_3628del | ENSP00000268910.8:p.Ser1209MetfsTer4 | |
| ENST00000389934.7:c.3745_3748del | ENSP00000374584.3:p.Ser1249MetfsTer4 | |
| ENST00000581147.1:c.185_188del | ||
| ENST00000582740.1:c.*3463_*3466del | ENSP00000463593.1:n.*3463_*3466del | |
| NM_001201457.1:c.3763_3766del | NP_001188386.1:p.Ser1255MetfsTer4 | |
| NM_031272.4:c.3625_3628del | NP_112562.3:p.Ser1209MetfsTer4 | |
| NM_198393.3:c.3745_3748del | NP_938207.2:p.Ser1249MetfsTer4 | |
| XM_011525028.1:c.3868_3871del | XP_011523330.1:p.Ser1290MetfsTer4 | |
| XM_011525029.1:c.3868_3871del | XP_011523331.1:p.Ser1290MetfsTer4 | |
| XM_011525030.1:c.3868_3871del | XP_011523332.1:p.Ser1290MetfsTer4 | |
| XM_011525031.1:c.3868_3871del | XP_011523333.1:p.Ser1290MetfsTer4 | |
| XM_011525032.1:c.3631_3634del | XP_011523334.1:p.Ser1211MetfsTer4 | |
| XM_011525033.1:c.2569_2572del | XP_011523335.1:p.Ser857MetfsTer4 | |
| XM_011525029.3:c.3868_3871del | XP_011523331.1:p.Ser1290MetfsTer4 | |
| XM_017024861.1:c.2569_2572del | XP_016880350.1:p.Ser857MetfsTer4 | |
| NM_001201457.2:c.3763_3766del | NP_001188386.1:p.Ser1255MetfsTer4 | |
| NM_031272.5:c.3625_3628del MANE Select | NP_112562.3:p.Ser1209MetfsTer4 | |
| NM_198393.4:c.3745_3748del | NP_938207.2:p.Ser1249MetfsTer4 |