Linked Data
dbSNP Id:
rs755727955
MyVariant Identifiers:
chr19:g.18898673_18898674insTTTC (hg19)
chr19:g.18787864_18787865insTTTC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18787862_18787865dup , CM000681.2:g.18787862_18787865dup | GRCh38 |
| NC_000019.9:g.18898671_18898674dup , CM000681.1:g.18898671_18898674dup | GRCh37 |
| NC_000019.8:g.18759671_18759674dup | NCBI36 |
| NG_007070.1:g.8442_8445dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.976-214_976-211dup MANE Select | ENSP00000222271.2:n.976-214_976-211dup | |
| ENST00000222271.6:c.976-214_976-211dup | ENSP00000222271.2:n.976-214_976-211dup | |
| ENST00000425807.1:c.817-214_817-211dup | ENSP00000403792.1:n.817-214_817-211dup | |
| ENST00000542601.6:c.877-214_877-211dup | ENSP00000439156.2:n.877-214_877-211dup | |
| NM_000095.2:c.976-214_976-211dup | NP_000086.2:n.976-214_976-211dup | |
| NM_000095.3:c.976-214_976-211dup MANE Select | NP_000086.2:n.976-214_976-211dup |