Linked Data
ClinVar Variation Id:
93747
dbSNP Id:
rs398123612
ExAC:
6:1612017 A / ACGG
gnomAD v2:
6-1612017-A-ACGG
gnomAD v3:
6-1611782-A-ACGG
gnomAD v4:
6-1611782-A-ACGG
COSMIC:
COSM5869719
MyVariant Identifiers:
chr6:g.1612039_1612041dup (hg19)
chr6:g.1612037_1612039dup (hg19)
chr6:g.1612039_1612041dupCGG (hg19)
chr6:g.1612041_1612042insCGG (hg19)
chr6:g.1612026_1612027insCGG (hg19)
chr6:g.1612023_1612024insCGG (hg19)
chr6:g.1612020_1612021insCGG (hg19)
chr6:g.1612017_1612018insCGG (hg19)
chr6:g.1611804_1611806dupCGG (hg38)
chr6:g.1611806_1611807insCGG (hg38)
chr6:g.1611791_1611792insCGG (hg38)
chr6:g.1611782_1611783insCGG (hg38)
PubMed:
PMID:23757202
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.1611804_1611806dup , CM000668.2:g.1611804_1611806dup | GRCh38 |
| NC_000006.11:g.1612039_1612041dup , CM000668.1:g.1612039_1612041dup | GRCh37 |
| NC_000006.10:g.1557038_1557040dup | NCBI36 |
| NG_009368.1:g.6359_6361dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645831.2:c.1359_1361dup MANE Select | ENSP00000493906.1:p.Gly454_Gly455insGly | |
| ENST00000380874.3:c.1359_1361dup | ENSP00000370256.2:p.Gly454_Gly455insGly | |
| NM_001453.2:c.1359_1361dup | NP_001444.2:p.Gly454_Gly455insGly | |
| NM_001453.3:c.1359_1361dup MANE Select | NP_001444.2:p.Gly454_Gly455insGly |