Linked Data
ClinVar Variation Id:
235330
ClinVar RCV Id:
RCV000224410
dbSNP Id:
rs771053807
ExAC:
17:61561231 G / GCAGTTC
gnomAD v2:
17-61561231-G-GCAGTTC
gnomAD v4:
17-63483870-G-GCAGTTC
MyVariant Identifiers:
chr17:g.61561231_61561232insCAGTTC (hg19)
chr17:g.63483870_63483871insCAGTTC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63483879_63483884dup , CM000679.2:g.63483879_63483884dup | GRCh38 |
| NC_000017.10:g.61561240_61561245dup , CM000679.1:g.61561240_61561245dup | GRCh37 |
| NC_000017.9:g.58914972_58914977dup | NCBI36 |
| NG_011648.1:g.11807_11812dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290866.10:c.1617_1622dup MANE Select | ENSP00000290866.4:p.Phe540_His541insGlnPhe | |
| ENST00000290866.9:c.1617_1622dup | ENSP00000290866.4:p.Phe540_His541insGlnPhe | |
| ENST00000428043.5:c.1617_1622dup | ENSP00000397593.2:p.Phe540_His541insGlnPhe | |
| ENST00000582678.5:c.*1016_*1021dup | ENSP00000462995.1:n.*1016_*1021dup | |
| NM_000789.3:c.1617_1622dup | NP_000780.1:p.Phe540_His541insGlnPhe | |
| XM_005257110.1:c.1068_1073dup | XP_005257167.1:p.Phe357_His358insGlnPhe | |
| NM_000789.4:c.1617_1622dup MANE Select | NP_000780.1:p.Phe540_His541insGlnPhe | |
| NM_001382700.1:c.1050_1055dup | NP_001369629.1:p.Phe351_His352insGlnPhe | |
| NM_001382701.1:c.765_770dup | NP_001369630.1:p.Phe256_His257insGlnPhe |