Linked Data
ClinVar Variation Id:
188893
ClinVar RCV Id:
RCV000169252
dbSNP Id:
rs786204541
MyVariant Identifiers:
chr17:g.3552230_3552231delinsCC (hg19)
chr17:g.3648936_3648937delinsCC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.3648936_3648937delinsCC , CM000679.2:g.3648936_3648937delinsCC | GRCh38 |
| NC_000017.10:g.3552230_3552231delinsCC , CM000679.1:g.3552230_3552231delinsCC | GRCh37 |
| NC_000017.9:g.3498979_3498980delinsCC | NCBI36 |
| NG_012489.1:g.17469_17470delinsCC | |
| NG_012489.2:g.17469_17470delinsCC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000046640.9:c.225+5_225+6delinsCC MANE Select | ENSP00000046640.4:n.225+5_225+6delinsCC | |
| ENST00000381870.8:c.225+5_225+6delinsCC | ENSP00000371294.3:n.225+5_225+6delinsCC | |
| ENST00000399306.7:c.225+5_225+6delinsCC | ENSP00000382245.2:n.225+5_225+6delinsCC | |
| ENST00000488623.6:c.-503+5_-503+6delinsCC | ENSP00000501016.1:n.-503+5_-503+6delinsCC... | |
| ENST00000574776.6:c.-112-6285_-112-6284delinsCC | ENSP00000461118.2:n.-112-6285_-112-6284de... | |
| ENST00000673669.1:c.-217+1414_-217+1415delinsCC | ENSP00000501123.1:n.-217+1414_-217+1415de... | |
| ENST00000673965.1:c.225+5_225+6delinsCC | ENSP00000500995.1:n.225+5_225+6delinsCC | |
| ENST00000046640.7:c.225+5_225+6delinsCC | ENSP00000046640.3:n.225+5_225+6delinsCC | |
| ENST00000381870.7:c.225+5_225+6delinsCC | ENSP00000371294.3:n.225+5_225+6delinsCC | |
| ENST00000399306.6:c.225+5_225+6delinsCC | ENSP00000382245.2:n.225+5_225+6delinsCC | |
| ENST00000467663.5:c.140+1414_140+1415delinsCC | ENSP00000461056.1:n.140+1414_140+1415deli... | |
| ENST00000488623.5:n.446+5_446+6delinsCC | ||
| ENST00000574218.1:c.-216-6062_-216-6061delinsCC | ENSP00000458912.1:n.-216-6062_-216-6061de... | |
| ENST00000574776.5:c.-112-6285_-112-6284delinsCC | ENSP00000461118.1:n.-112-6285_-112-6284de... | |
| ENST00000576979.1:c.225+5_225+6delinsCC | ENSP00000458457.1:n.225+5_225+6delinsCC | |
| NM_001031681.2:c.225+5_225+6delinsCC | NP_001026851.2:n.225+5_225+6delinsCC | |
| NM_004937.2:c.225+5_225+6delinsCC | NP_004928.2:n.225+5_225+6delinsCC | |
| XM_005256485.1:c.225+5_225+6delinsCC | XP_005256542.1:n.225+5_225+6delinsCC | |
| XM_006721463.1:c.225+5_225+6delinsCC | XP_006721526.1:n.225+5_225+6delinsCC | |
| XM_006721464.1:c.-217+1414_-217+1415delinsCC | XP_006721527.1:n.-217+1414_-217+1415delin... | |
| XM_011523691.1:c.225+5_225+6delinsCC | XP_011521993.1:n.225+5_225+6delinsCC | |
| XM_011523692.1:c.-217+5_-217+6delinsCC | XP_011521994.1:n.-217+5_-217+6delinsCC | |
| XR_934003.1:n.818+5_818+6delinsCC | ||
| XR_934164.1:n.430+1227_430+1228delinsGG | ||
| XM_005256485.3:c.225+5_225+6delinsCC | XP_005256542.1:n.225+5_225+6delinsCC | |
| XM_006721463.3:c.225+5_225+6delinsCC | XP_006721526.1:n.225+5_225+6delinsCC | |
| XM_006721464.2:c.-217+1414_-217+1415delinsCC | XP_006721527.1:n.-217+1414_-217+1415delin... | |
| XM_011523691.2:c.225+5_225+6delinsCC | XP_011521993.1:n.225+5_225+6delinsCC | |
| XM_011523692.2:c.-217+5_-217+6delinsCC | XP_011521994.1:n.-217+5_-217+6delinsCC | |
| XM_017024254.1:c.-216-6062_-216-6061delinsCC | XP_016879743.1:n.-216-6062_-216-6061delin... | |
| XM_017024255.1:c.-217+1414_-217+1415delinsCC | XP_016879744.1:n.-217+1414_-217+1415delin... | |
| XM_017024256.1:c.-217+5_-217+6delinsCC | XP_016879745.1:n.-217+5_-217+6delinsCC | |
| XM_017024257.1:c.-216-6062_-216-6061delinsCC | XP_016879746.1:n.-216-6062_-216-6061delin... | |
| XM_017024258.1:c.-217+1414_-217+1415delinsCC | XP_016879747.1:n.-217+1414_-217+1415delin... | |
| XR_001752758.1:n.452+1227_452+1228delinsGG | ||
| XR_001752759.1:n.324+1227_324+1228delinsGG | ||
| XR_001752760.1:n.452+1227_452+1228delinsGG | ||
| XR_001752761.2:n.452+1227_452+1228delinsGG | ||
| XR_002958115.1:n.139+1227_139+1228delinsGG | ||
| XR_934164.2:n.452+1227_452+1228delinsGG | ||
| NM_001374492.1:c.225+5_225+6delinsCC | NP_001361421.1:n.225+5_225+6delinsCC | |
| NM_001374493.1:c.-217+1414_-217+1415delinsCC | NP_001361422.1:n.-217+1414_-217+1415delin... | |
| NM_001374494.1:c.-217+5_-217+6delinsCC | NP_001361423.1:n.-217+5_-217+6delinsCC | |
| NM_001374495.1:c.-216-6062_-216-6061delinsCC | NP_001361424.1:n.-216-6062_-216-6061delin... | |
| NM_001374496.1:c.-217+1414_-217+1415delinsCC | NP_001361425.1:n.-217+1414_-217+1415delin... | |
| NM_004937.3:c.225+5_225+6delinsCC MANE Select | NP_004928.2:n.225+5_225+6delinsCC | |
| NM_001031681.3:c.225+5_225+6delinsCC | NP_001026851.2:n.225+5_225+6delinsCC |