Linked Data
ClinVar Variation Id:
462247
dbSNP Id:
rs276174816
ExAC:
13:32907535 C / CTT
gnomAD v2:
13-32907535-C-CTT
gnomAD v3:
13-32333398-C-CTT
gnomAD v4:
13-32333398-C-CTT
MyVariant Identifiers:
chr13:g.32907545_32907546dup (hg19)
chr13:g.32907538_32907539insTT (hg19)
chr13:g.32907537_32907538insTT (hg19)
chr13:g.32907536_32907537insTT (hg19)
chr13:g.32907535_32907536insTT (hg19)
chr13:g.32333408_32333409dup (hg38)
chr13:g.32333399_32333400insTT (hg38)
chr13:g.32333398_32333399insTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32333408_32333409dup , CM000675.2:g.32333408_32333409dup | GRCh38 |
| NC_000013.10:g.32907545_32907546dup , CM000675.1:g.32907545_32907546dup | GRCh37 |
| NC_000013.9:g.31805545_31805546dup | NCBI36 |
| NG_012772.3:g.22929_22930dup , LRG_293:g.22929_22930dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.1909+21_1909+22dup | ENSP00000434898.2:n.1909+21_1909+22dup | |
| ENST00000528762.2:c.1909+21_1909+22dup | ENSP00000433168.2:n.1909+21_1909+22dup | |
| ENST00000530893.7:c.1540+21_1540+22dup | ENSP00000499438.2:n.1540+21_1540+22dup | |
| ENST00000665585.2:c.1909+21_1909+22dup | ENSP00000499570.2:n.1909+21_1909+22dup | |
| ENST00000666593.2:c.1909+21_1909+22dup | ENSP00000499256.2:n.1909+21_1909+22dup | |
| ENST00000700202.2:c.1909+21_1909+22dup | ENSP00000514856.2:n.1909+21_1909+22dup | |
| ENST00000380152.8:c.1909+21_1909+22dup MANE Select | ENSP00000369497.3:n.1909+21_1909+22dup | |
| ENST00000544455.6:c.1909+21_1909+22dup | ENSP00000439902.1:n.1909+21_1909+22dup | |
| ENST00000614259.2:c.1909+21_1909+22dup | ENSP00000506251.1:n.1909+21_1909+22dup | |
| ENST00000680887.1:c.1909+21_1909+22dup | ENSP00000505508.1:n.1909+21_1909+22dup | |
| ENST00000380152.7:c.1909+21_1909+22dup | ENSP00000369497.3:n.1909+21_1909+22dup | |
| ENST00000544455.5:c.1909+21_1909+22dup | ENSP00000439902.1:n.1909+21_1909+22dup | |
| ENST00000614259.1:n.1909+21_1909+22dup | ||
| NM_000059.3:c.1909+21_1909+22dup , LRG_293t1:c.1909+21_1909+22dup | NP_000050.2:n.1909+21_1909+22dup | |
| XM_011535203.1:c.1909+21_1909+22dup | XP_011533505.1:n.1909+21_1909+22dup | |
| XM_011535204.1:c.1909+21_1909+22dup | XP_011533506.1:n.1909+21_1909+22dup | |
| XM_011535205.1:c.1909+21_1909+22dup | XP_011533507.1:n.1909+21_1909+22dup | |
| NM_000059.4:c.1909+21_1909+22dup MANE Select | NP_000050.3:n.1909+21_1909+22dup |