Linked Data
ClinVar Variation Id:
3195
ClinVar RCV Id:
RCV000003346
RCV000255938
RCV000622680
RCV002496241
RCV003904800
RCV003472961
RCV004017224
dbSNP Id:
rs113993991
MyVariant Identifiers:
chr7:g.66459273_66459274delinsAG (hg19)
chr7:g.66994286_66994287delinsAG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.66994286_66994287delinsAG , CM000669.2:g.66994286_66994287delinsAG | GRCh38 |
| NC_000007.13:g.66459273_66459274delinsAG , CM000669.1:g.66459273_66459274delinsAG | GRCh37 |
| NC_000007.12:g.66096708_66096709delinsAG | NCBI36 |
| NG_007277.1:g.6315_6316delinsCT , LRG_104:g.6315_6316delinsCT | |
| NG_033069.1:g.2482_2483delinsAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000414306.6:c.183_184delinsCT | ENSP00000394586.1:p.Ser62Ter | |
| ENST00000697860.1:n.150_151delinsCT | ||
| ENST00000697861.1:c.183_184delinsCT | ENSP00000513460.1:p.Ser62Ter | |
| ENST00000697862.1:c.183_184delinsCT | ENSP00000513461.1:p.Ser62Ter | |
| ENST00000697863.1:c.126_127delinsCT | ENSP00000513462.1:p.Ser43Ter | |
| ENST00000697864.1:n.1327_1328delinsCT | ||
| ENST00000697865.1:c.126_127delinsCT | ENSP00000513463.1:p.Ser43Ter | |
| ENST00000697866.1:c.-136_-135delinsCT | ENSP00000513464.1:n.-136_-135delinsCT | |
| ENST00000697867.1:c.23_24delinsCT | ||
| ENST00000697868.1:c.129-5_129-4delinsCT | ENSP00000513466.1:n.129-5_129-4delinsCT | |
| ENST00000697869.1:c.129-10_129-9delinsCT | ENSP00000513467.1:n.129-10_129-9delinsCT | |
| ENST00000697897.1:c.183_184delinsCT | ENSP00000513469.1:p.Ser62Ter | |
| ENST00000246868.7:c.183_184delinsCT MANE Select | ENSP00000246868.2:p.Ser62Ter | |
| ENST00000246868.6:c.183_184delinsCT | ENSP00000246868.2:p.Ser62Ter | |
| ENST00000414306.5:c.183_184delinsCT | ENSP00000394586.1:p.Ser62Ter | |
| ENST00000463579.1:n.80_81delinsCT | ||
| ENST00000490953.5:n.332_333delinsCT | ||
| ENST00000617799.1:c.183_184delinsCT | ENSP00000483040.1:p.Ser62Ter | |
| NM_016038.2:c.183_184delinsCT , LRG_104t1:c.183_184delinsCT | NP_057122.2:p.Ser62Ter | |
| NM_016038.3:c.183_184delinsCT | NP_057122.2:p.Ser62Ter | |
| NM_016038.4:c.183_184delinsCT MANE Select | NP_057122.2:p.Ser62Ter |