Linked Data
dbSNP Id:
rs1292892143
MyVariant Identifiers:
chr5:g.172661627_172661628insTTC (hg19)
chr5:g.173234624_173234625insTTC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.173234626_173234628dup , CM000667.2:g.173234626_173234628dup | GRCh38 |
| NC_000005.9:g.172661629_172661631dup , CM000667.1:g.172661629_172661631dup | GRCh37 |
| NC_000005.8:g.172594235_172594237dup | NCBI36 |
| NG_013340.1:g.5686_5688dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329198.5:c.334+123_334+125dup MANE Select | ENSP00000327758.4:n.334+123_334+125dup | |
| ENST00000329198.4:c.334+123_334+125dup | ENSP00000327758.4:n.334+123_334+125dup | |
| ENST00000424406.2:c.334+123_334+125dup | ENSP00000395378.2:n.334+123_334+125dup | |
| ENST00000517440.1:c.334+123_334+125dup | ENSP00000429905.1:n.334+123_334+125dup | |
| ENST00000521848.1:c.334+123_334+125dup | ENSP00000427906.1:n.334+123_334+125dup | |
| NM_001166175.1:c.334+123_334+125dup | NP_001159647.1:n.334+123_334+125dup | |
| NM_001166176.1:c.334+123_334+125dup | NP_001159648.1:n.334+123_334+125dup | |
| NM_004387.3:c.334+123_334+125dup | NP_004378.1:n.334+123_334+125dup | |
| XM_017009071.2:c.334+123_334+125dup | XP_016864560.1:n.334+123_334+125dup | |
| NM_004387.4:c.334+123_334+125dup MANE Select | NP_004378.1:n.334+123_334+125dup | |
| NM_001166175.2:c.334+123_334+125dup | NP_001159647.1:n.334+123_334+125dup | |
| NM_001166176.2:c.334+123_334+125dup | NP_001159648.1:n.334+123_334+125dup |