Linked Data
ClinVar Variation Id:
216137
ClinVar RCV Id:
RCV000198339
dbSNP Id:
rs863224529
MyVariant Identifiers:
chr4:g.122749327_122749329delinsA (hg19)
chr4:g.121828172_121828174delinsA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.121828172_121828174delinsA , CM000666.2:g.121828172_121828174delinsA | GRCh38 |
| NC_000004.11:g.122749327_122749329delinsA , CM000666.1:g.122749327_122749329delinsA | GRCh37 |
| NC_000004.10:g.122968777_122968779delinsA | NCBI36 |
| NG_009111.1:g.47314_47316delinsT | |
| NG_052974.1:g.828_830delinsT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264499.9:c.1986_1988delinsT MANE Select | ENSP00000264499.4:p.Lys662AsnfsTer6 | |
| ENST00000264499.8:c.1986_1988delinsT | ENSP00000264499.4:p.Lys662AsnfsTer6 | |
| ENST00000506636.1:c.1986_1988delinsT | ENSP00000423626.1:p.Lys662AsnfsTer6 | |
| ENST00000507814.5:c.255_257delinsT | ENSP00000423250.1:p.Lys85AsnfsTer6 | |
| NM_018190.3:c.1986_1988delinsT | NP_060660.2:p.Lys662AsnfsTer6 | |
| NM_176824.2:c.1986_1988delinsT | NP_789794.1:p.Lys662AsnfsTer6 | |
| XM_005263106.2:c.1989_1991delinsT | XP_005263163.1:p.Lys663AsnfsTer6 | |
| XM_011532079.1:c.2034_2036delinsT | XP_011530381.1:p.Lys678AsnfsTer6 | |
| XM_011532080.1:c.2031_2033delinsT | XP_011530382.1:p.Lys677AsnfsTer6 | |
| XM_011532081.1:c.1869_1871delinsT | XP_011530383.1:p.Lys623AsnfsTer6 | |
| XM_005263106.4:c.1989_1991delinsT | XP_005263163.1:p.Lys663AsnfsTer6 | |
| XM_011532079.3:c.2034_2036delinsT | XP_011530381.1:p.Lys678AsnfsTer6 | |
| XM_011532080.3:c.2031_2033delinsT | XP_011530382.1:p.Lys677AsnfsTer6 | |
| XM_011532081.3:c.1869_1871delinsT | XP_011530383.1:p.Lys623AsnfsTer6 | |
| XM_017008357.2:c.1821_1823delinsT | XP_016863846.1:p.Lys607AsnfsTer6 | |
| XM_017008358.2:c.1824_1826delinsT | XP_016863847.1:p.Lys608AsnfsTer6 | |
| NM_176824.3:c.1986_1988delinsT MANE Select | NP_789794.1:p.Lys662AsnfsTer6 | |
| NM_018190.4:c.1986_1988delinsT | NP_060660.2:p.Lys662AsnfsTer6 |