Linked Data
ClinVar Variation Id:
631979
ClinVar RCV Id:
RCV000778789
dbSNP Id:
rs1554292539
ExAC:
6:31937382 C / CG
gnomAD v2:
6-31937382-C-CG
gnomAD v4:
6-31969605-C-CG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31969611dup , CM000668.2:g.31969611dup | GRCh38 |
| NC_000006.11:g.31937388dup , CM000668.1:g.31937388dup | GRCh37 |
| NC_000006.10:g.32045367dup | NCBI36 |
| NG_032652.1:g.15808dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461073.6:c.*2685dup | ENSP00000419905.1:n.*2685dup | |
| ENST00000485349.6:n.4113dup | ||
| ENST00000491994.2:c.*179dup | ENSP00000417586.2:n.*179dup | |
| ENST00000494058.6:n.3939dup | ||
| ENST00000697831.1:c.3568dup | ENSP00000513453.1:p.Ala1190GlyfsTer? | |
| ENST00000697832.1:n.3790dup | ||
| ENST00000697834.1:n.4355dup | ||
| ENST00000697835.1:c.*3155dup | ENSP00000513455.1:n.*3155dup | |
| ENST00000697836.1:n.3991dup | ||
| ENST00000697837.1:c.*753dup | ENSP00000513456.1:n.*753dup | |
| ENST00000697838.1:c.3502dup | ENSP00000513457.1:p.Ala1168GlyfsTer? | |
| ENST00000697839.1:n.4449dup | ||
| ENST00000697840.1:c.3673dup | ENSP00000513458.1:p.Ala1225GlyfsTer? | |
| ENST00000697841.1:n.4548dup | ||
| ENST00000697842.1:n.3892dup | ||
| ENST00000375394.7:c.3637dup MANE Select | ENSP00000364543.2:p.Ala1213GlyfsTer? | |
| ENST00000375394.6:c.3637dup | ENSP00000364543.2:p.Ala1213GlyfsTer? | |
| ENST00000465703.5:n.4367dup | ||
| ENST00000471818.1:n.566dup | ||
| ENST00000474839.5:c.*3009dup | ENSP00000420470.1:n.*3009dup | |
| ENST00000483553.5:c.1167dup | ||
| ENST00000491994.1:c.726dup | ||
| NM_006929.4:c.3637dup | NP_008860.4:p.Ala1213GlyfsTer? | |
| XR_926301.3:n.3653dup | ||
| NM_006929.5:c.3637dup MANE Select | NP_008860.4:p.Ala1213GlyfsTer? |