Linked Data
ClinVar Variation Id:
405910
ClinVar RCV Id:
RCV002523293
dbSNP Id:
rs1060500895
MyVariant Identifiers:
chr1:g.241661152_241661153insGGTTTG (hg19)
chr1:g.241497852_241497853insGGTTTG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.241497857_241497858insGGGTTT , CM000663.2:g.241497857_241497858insGGGTTT | GRCh38 |
| NC_000001.10:g.241661157_241661158insGGGTTT , CM000663.1:g.241661157_241661158insGGGTTT | GRCh37 |
| NC_000001.9:g.239727780_239727781insGGGTTT | NCBI36 |
| NG_012338.1:g.26902_26903insCAAACC , LRG_504:g.26902_26903insCAAACC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000493477.2:n.2011_2012insCAAACC | ||
| ENST00000682162.1:c.1537_1538insCAAACC | ENSP00000508203.1:n.1537_1538insCAAACC | |
| ENST00000682567.1:n.4908_4909insCAAACC | ||
| ENST00000684161.1:n.2723_2724insCAAACC | ||
| ENST00000684483.1:c.*904_*905insCAAACC | ENSP00000507894.1:n.*904_*905insCAAACC | |
| ENST00000366560.4:c.1508_1509insCAAACC MANE Select | ENSP00000355518.4:p.Pro503_Lys504insLysPro | |
| ENST00000366560.3:c.1508_1509insCAAACC | ENSP00000355518.3:p.Pro503_Lys504insLysPro | |
| NM_000143.3:c.1508_1509insCAAACC , LRG_504t1:c.1508_1509insCAAACC | NP_000134.2:p.Pro503_Lys504insLysPro | |
| XM_011544132.1:c.1280_1281insCAAACC | XP_011542434.1:p.Pro427_Lys428insLysPro | |
| XM_011544132.2:c.1280_1281insCAAACC | XP_011542434.1:p.Pro427_Lys428insLysPro | |
| NM_000143.4:c.1508_1509insCAAACC MANE Select | NP_000134.2:p.Pro503_Lys504insLysPro |