Linked Data
ClinVar Variation Id:
191379
dbSNP Id:
rs786205273
MyVariant Identifiers:
chr1:g.237778085dupG (hg19)
chr1:g.237778079_237778080insG (hg19)
chr1:g.237614785dupG (hg38)
chr1:g.237614779_237614780insG (hg38)
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.237614785dup , CM000663.2:g.237614785dup | GRCh38 |
| NC_000001.10:g.237778085dup , CM000663.1:g.237778085dup | GRCh37 |
| NC_000001.9:g.235844708dup | NCBI36 |
| NG_008799.2:g.577384dup | |
| NG_008799.3:g.577602dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000609119.2:c.5657dup | ENSP00000499659.2:p.Lys1887GlnfsTer17 | |
| ENST00000659194.3:c.5657dup | ENSP00000499653.3:p.Lys1887GlnfsTer17 | |
| ENST00000660292.2:c.5657dup | ENSP00000499787.2:p.Lys1887GlnfsTer17 | |
| ENST00000366574.7:c.5657dup MANE Select | ENSP00000355533.2:p.Lys1887GlnfsTer17 | |
| ENST00000360064.7:c.5609dup | ENSP00000353174.7:p.Lys1871GlnfsTer17 | |
| ENST00000366574.6:c.5657dup | ENSP00000355533.2:p.Lys1887GlnfsTer17 | |
| NM_001035.2:c.5657dup | NP_001026.2:p.Lys1887GlnfsTer17 | |
| XM_006711802.2:c.5687dup | XP_006711865.1:p.Lys1897GlnfsTer17 | |
| XM_006711803.2:c.5684dup | XP_006711866.1:p.Lys1896GlnfsTer17 | |
| XM_006711804.2:c.5687dup | XP_006711867.1:p.Lys1897GlnfsTer17 | |
| XM_006711805.2:c.5657dup | XP_006711868.1:p.Lys1887GlnfsTer17 | |
| XM_006711806.2:c.5687dup | XP_006711869.1:p.Lys1897GlnfsTer17 | |
| XM_006711807.2:c.5687dup | XP_006711870.1:p.Lys1897GlnfsTer17 | |
| XM_006711808.2:c.5687dup | XP_006711871.1:p.Lys1897GlnfsTer17 | |
| XM_006711809.2:c.5687dup | XP_006711872.1:p.Lys1897GlnfsTer17 | |
| XM_006711810.2:c.5654dup | XP_006711873.1:p.Lys1886GlnfsTer17 | |
| XR_949152.1:n.5968dup | ||
| XM_006711802.3:c.5687dup | XP_006711865.1:p.Lys1897GlnfsTer17 | |
| XM_006711803.3:c.5684dup | XP_006711866.1:p.Lys1896GlnfsTer17 | |
| XM_006711804.3:c.5687dup | XP_006711867.1:p.Lys1897GlnfsTer17 | |
| XM_006711805.3:c.5657dup | XP_006711868.1:p.Lys1887GlnfsTer17 | |
| XM_006711806.3:c.5687dup | XP_006711869.1:p.Lys1897GlnfsTer17 | |
| XM_006711807.3:c.5687dup | XP_006711870.1:p.Lys1897GlnfsTer17 | |
| XM_006711808.3:c.5687dup | XP_006711871.1:p.Lys1897GlnfsTer17 | |
| XM_006711810.3:c.5654dup | XP_006711873.1:p.Lys1886GlnfsTer17 | |
| XM_017002028.1:c.5666dup | XP_016857517.1:p.Lys1890GlnfsTer17 | |
| XR_002957299.1:n.6001dup | ||
| XR_949152.2:n.6001dup | ||
| NM_001035.3:c.5657dup MANE Select | NP_001026.2:p.Lys1887GlnfsTer17 |