Linked Data
ClinVar Variation Id:
198710
dbSNP Id:
rs563675060
ExAC:
6:137193320 C / CT
gnomAD v2:
6-137193320-C-CT
gnomAD v3:
6-136872182-C-CT
gnomAD v4:
6-136872182-C-CT
MyVariant Identifiers:
chr6:g.137193331dupT (hg19)
chr6:g.137193322_137193323insT (hg19)
chr6:g.137193321_137193322insT (hg19)
chr6:g.137193320_137193321insT (hg19)
chr6:g.136872193dupT (hg38)
chr6:g.136872184_136872185insT (hg38)
chr6:g.136872183_136872184insT (hg38)
chr6:g.136872182_136872183insT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.136872193dup , CM000668.2:g.136872193dup | GRCh38 |
| NC_000006.11:g.137193331dup , CM000668.1:g.137193331dup | GRCh37 |
| NC_000006.10:g.137235024dup | NCBI36 |
| NG_008462.1:g.54614dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318471.5:c.748-5dup MANE Select | ENSP00000315680.3:n.748-5dup | |
| ENST00000541292.6:c.*13-5dup | ENSP00000441004.1:n.*13-5dup | |
| ENST00000678002.1:c.436-5dup | ||
| ENST00000678557.1:c.634-5dup | ENSP00000502962.1:n.634-5dup | |
| ENST00000678593.1:c.753-5dup | ENSP00000503841.1:n.753-5dup | |
| ENST00000679286.1:c.628-5dup | ENSP00000503168.1:n.628-5dup | |
| ENST00000318471.4:c.748-5dup | ENSP00000315680.3:n.748-5dup | |
| NM_000288.3:c.748-5dup | NP_000279.1:n.748-5dup | |
| XM_005267019.3:c.634-5dup | XP_005267076.1:n.634-5dup | |
| XM_006715502.1:c.454-5dup | XP_006715565.1:n.454-5dup | |
| XM_011535900.1:c.527-25949dup | XP_011534202.1:n.527-25949dup | |
| XM_005267019.4:c.634-5dup | XP_005267076.1:n.634-5dup | |
| XM_006715502.2:c.454-5dup | XP_006715565.1:n.454-5dup | |
| XM_017010934.2:c.527-25949dup | XP_016866423.1:n.527-25949dup | |
| NM_000288.4:c.748-5dup MANE Select | NP_000279.1:n.748-5dup |