Linked Data
ClinVar Variation Id:
225404
dbSNP Id:
rs202207965
ExAC:
6:70411439 T / TA
gnomAD v2:
6-70411439-T-TA
gnomAD v3:
6-69701547-T-TA
gnomAD v4:
6-69701547-T-TA
COSMIC:
COSM5830501
MyVariant Identifiers:
chr6:g.70411440dupA (hg19)
chr6:g.70411440_70411441insA (hg19)
chr6:g.70411439_70411440insA (hg19)
chr6:g.69701548dupA (hg38)
chr6:g.69701548_69701549insA (hg38)
chr6:g.69701547_69701548insA (hg38)
PubMed:
PMID:19136951
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.69701555dup , CM000668.2:g.69701555dup | GRCh38 |
| NC_000006.11:g.70411447dup , CM000668.1:g.70411447dup | GRCh37 |
| NC_000006.10:g.70468168dup | NCBI36 |
| NG_016012.1:g.100610dup | |
| NG_016012.2:g.170069dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370570.6:c.762-3dup | ENSP00000359602.1:n.762-3dup | |
| ENST00000472827.2:c.*146-3dup | ENSP00000433385.2:n.*146-3dup | |
| ENST00000647650.1:c.*478-3dup | ENSP00000497808.1:n.*478-3dup | |
| ENST00000647655.1:n.2584-3dup | ||
| ENST00000647934.1:n.1301-3dup | ||
| ENST00000647964.1:c.762-3dup | ENSP00000496784.1:n.762-3dup | |
| ENST00000648168.1:c.762-3dup | ENSP00000498178.1:n.762-3dup | |
| ENST00000648210.1:n.792-3dup | ||
| ENST00000648265.1:n.848-3dup | ||
| ENST00000648303.1:c.*554-3dup | ENSP00000498133.1:n.*554-3dup | |
| ENST00000648394.1:c.762-3dup | ENSP00000497302.1:n.762-3dup | |
| ENST00000648635.1:c.*746-3dup | ENSP00000497204.1:n.*746-3dup | |
| ENST00000648743.1:c.762-3dup | ENSP00000497135.1:n.762-3dup | |
| ENST00000649011.1:c.1047-3dup | ENSP00000497575.1:n.1047-3dup | |
| ENST00000649028.1:c.762-3dup | ENSP00000498034.1:n.762-3dup | |
| ENST00000649054.1:c.*38-3dup | ENSP00000496991.1:n.*38-3dup | |
| ENST00000649057.1:c.*546-3dup | ENSP00000497639.1:n.*546-3dup | |
| ENST00000649166.1:c.*665-3dup | ENSP00000496844.1:n.*665-3dup | |
| ENST00000649370.1:n.1172-3dup | ||
| ENST00000649673.1:c.*337-3dup | ENSP00000497864.1:n.*337-3dup | |
| ENST00000649679.1:c.762-3dup | ENSP00000497387.1:n.762-3dup | |
| ENST00000649744.1:n.1169-3dup | ||
| ENST00000649795.1:c.*568-3dup | ENSP00000498147.1:n.*568-3dup | |
| ENST00000649918.1:c.762-3dup | ENSP00000497487.1:n.762-3dup | |
| ENST00000649934.3:c.981-3dup MANE Select | ENSP00000497690.1:n.981-3dup | |
| ENST00000649958.1:c.*566-3dup | ENSP00000496827.1:n.*566-3dup | |
| ENST00000649970.1:c.860-3dup | ||
| ENST00000650035.1:c.762-3dup | ENSP00000497703.1:n.762-3dup | |
| ENST00000650043.1:n.960-3dup | ||
| ENST00000650107.1:c.762-3dup | ENSP00000497124.1:n.762-3dup | |
| ENST00000650124.1:c.*491-3dup | ENSP00000497903.1:n.*491-3dup | |
| ENST00000650473.1:c.734-3dup | ENSP00000497045.1:n.734-3dup | |
| ENST00000370570.5:c.762-3dup | ENSP00000359602.1:n.762-3dup | |
| ENST00000370577.7:c.981-3dup | ENSP00000359609.3:n.981-3dup | |
| ENST00000472827.1:c.981-3dup | ENSP00000433385.1:n.981-3dup | |
| NM_018368.3:c.981-3dup | NP_060838.3:n.981-3dup | |
| XM_006715511.2:c.369-3dup | XP_006715574.1:n.369-3dup | |
| XM_011535941.1:c.762-3dup | XP_011534243.1:n.762-3dup | |
| NM_001363722.1:c.762-3dup | NP_001350651.1:n.762-3dup | |
| XM_024446488.1:c.762-3dup | XP_024302256.1:n.762-3dup | |
| NM_001363722.2:c.762-3dup | NP_001350651.1:n.762-3dup | |
| NM_001367271.1:c.762-3dup | NP_001354200.1:n.762-3dup | |
| NM_001367272.1:c.762-3dup | NP_001354201.1:n.762-3dup | |
| NM_018368.4:c.981-3dup MANE Select | NP_060838.3:n.981-3dup |