Linked Data
ClinVar Variation Id:
24
dbSNP Id:
rs1555813914
MyVariant Identifiers:
chr20:g.25304045_25304046delinsAAA (hg19)
chr20:g.25323409_25323410delinsAAA (hg38)
PubMed:
PMID:20797687
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.25323409_25323410delinsAAA , CM000682.2:g.25323409_25323410delinsAAA | GRCh38 |
| NC_000020.10:g.25304045_25304046delinsAAA , CM000682.1:g.25304045_25304046delinsAAA | GRCh37 |
| NC_000020.9:g.25252045_25252046delinsAAA | NCBI36 |
| NG_028119.1:g.72573_72574delinsTTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000339157.10:c.337_338delinsTTT MANE Select | ENSP00000341408.5:p.Asp113PhefsTer15 | |
| ENST00000376542.8:c.337_338delinsTTT | ENSP00000365725.3:p.Asp113PhefsTer15 | |
| ENST00000672406.1:c.-135_-134delinsTTT | ENSP00000500208.1:n.-135_-134delinsTTT | |
| ENST00000672566.1:c.-135_-134delinsTTT | ENSP00000500106.1:n.-135_-134delinsTTT | |
| ENST00000673121.1:c.-135_-134delinsTTT | ENSP00000499839.1:n.-135_-134delinsTTT | |
| ENST00000673524.1:c.29_30delinsTTT | ||
| ENST00000339157.9:c.337_338delinsTTT | ENSP00000341408.5:p.Asp113PhefsTer15 | |
| ENST00000376542.7:c.337_338delinsTTT | ENSP00000365725.3:p.Asp113PhefsTer15 | |
| ENST00000450393.5:c.202_203delinsTTT | ENSP00000413311.1:p.Asp68PhefsTer15 | |
| ENST00000461204.1:c.*100_*101delinsTTT | ENSP00000460249.1:n.*100_*101delinsTTT | |
| ENST00000471287.5:c.-135_-134delinsTTT | ENSP00000460950.1:n.-135_-134delinsTTT | |
| ENST00000491682.5:c.-135_-134delinsTTT | ENSP00000459495.1:n.-135_-134delinsTTT | |
| NM_001042472.2:c.337_338delinsTTT | NP_001035937.1:p.Asp113PhefsTer15 | |
| NM_015600.4:c.337_338delinsTTT | NP_056415.1:p.Asp113PhefsTer15 | |
| XM_005260698.1:c.337_338delinsTTT | XP_005260755.1:p.Asp113PhefsTer15 | |
| XM_005260699.3:c.337_338delinsTTT | XP_005260756.1:p.Asp113PhefsTer15 | |
| XM_005260700.1:c.-135_-134delinsTTT | XP_005260757.1:n.-135_-134delinsTTT | |
| XM_011529214.1:c.337_338delinsTTT | XP_011527516.1:p.Asp113PhefsTer15 | |
| XM_011529215.1:c.-135_-134delinsTTT | XP_011527517.1:n.-135_-134delinsTTT | |
| XM_011529216.1:c.-135_-134delinsTTT | XP_011527518.1:n.-135_-134delinsTTT | |
| XM_011529217.1:c.-201_-200delinsTTT | XP_011527519.1:n.-201_-200delinsTTT | |
| XM_011529218.1:c.-201_-200delinsTTT | XP_011527520.1:n.-201_-200delinsTTT | |
| XM_011529214.2:c.337_338delinsTTT | XP_011527516.1:p.Asp113PhefsTer15 | |
| XM_017027796.1:c.-135_-134delinsTTT | XP_016883285.1:n.-135_-134delinsTTT | |
| XM_017027797.2:c.337_338delinsTTT | XP_016883286.1:p.Asp113PhefsTer15 | |
| XR_002958465.1:n.347_348delinsTTT | ||
| XR_002958466.1:n.467_468delinsTTT | ||
| XR_002958467.1:n.146_147delinsTTT | ||
| NM_001042472.3:c.337_338delinsTTT MANE Select | NP_001035937.1:p.Asp113PhefsTer15 | |
| NM_015600.5:c.337_338delinsTTT | NP_056415.1:p.Asp113PhefsTer15 |