Linked Data
ClinVar Variation Id:
522332
ClinVar RCV Id:
RCV000625419
dbSNP Id:
rs751421308
ExAC:
6:16327864 G / GTGCTGC
gnomAD v2:
6-16327864-G-GTGCTGC
gnomAD v3:
6-16327633-G-GTGCTGC
gnomAD v4:
6-16327633-G-GTGCTGC
COSMIC:
COSM1167870
MyVariant Identifiers:
chr6:g.16327865_16327870dup (hg19)
chr6:g.16327885_16327886insTGCTGC (hg19)
chr6:g.16327882_16327883insTGCTGC (hg19)
chr6:g.16327879_16327880insTGCTGC (hg19)
chr6:g.16327876_16327877insTGCTGC (hg19)
chr6:g.16327864_16327865insTGCTGC (hg19)
chr6:g.16327634_16327639dup (hg38)
chr6:g.16327654_16327655insTGCTGC (hg38)
chr6:g.16327633_16327634insTGCTGC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.16327672_16327677dup , CM000668.2:g.16327672_16327677dup | GRCh38 |
| NC_000006.11:g.16327903_16327908dup , CM000668.1:g.16327903_16327908dup | GRCh37 |
| NC_000006.10:g.16435882_16435887dup | NCBI36 |
| NG_011571.1:g.438852_438857dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000436367.6:c.672_677dup MANE Select | ENSP00000416360.1:p.Gln225_His226insGlnGl... | |
| ENST00000244769.8:c.672_677dup | ENSP00000244769.3:p.Gln225_His226insGlnGl... | |
| ENST00000436367.5:c.672_677dup | ENSP00000416360.1:p.Gln225_His226insGlnGl... | |
| NM_000332.3:c.672_677dup | NP_000323.2:p.Gln225_His226insGlnGln | |
| NM_001128164.1:c.672_677dup | NP_001121636.1:p.Gln225_His226insGlnGln | |
| NM_001357857.1:c.*85_*90dup | NP_001344786.1:n.*85_*90dup | |
| NM_001357857.2:c.*85_*90dup | NP_001344786.1:n.*85_*90dup | |
| NM_001128164.2:c.672_677dup MANE Select | NP_001121636.1:p.Gln225_His226insGlnGln | |
| NM_000332.4:c.672_677dup | NP_000323.2:p.Gln225_His226insGlnGln |