Linked Data
dbSNP Id:
rs777768281
ExAC:
5:10256281 T / TGATAA
gnomAD v2:
5-10256281-T-TGATAA
MyVariant Identifiers:
chr5:g.10256281_10256282insGATAA (hg19)
chr5:g.10256169_10256170insGATAA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.10256173_10256174insAGATA , CM000667.2:g.10256173_10256174insAGATA | GRCh38 |
| NC_000005.9:g.10256285_10256286insAGATA , CM000667.1:g.10256285_10256286insAGATA | GRCh37 |
| NC_000005.8:g.10309285_10309286insAGATA | NCBI36 |
| NG_012160.1:g.11004_11005insAGATA , LRG_361:g.11004_11005insAGATA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000280326.9:c.530+20_530+21insAGATA MANE Select | ENSP00000280326.4:n.530+20_530+21insAGATA | |
| ENST00000280326.8:c.530+20_530+21insAGATA | ENSP00000280326.4:n.530+20_530+21insAGATA | |
| ENST00000423695.6:n.128-1938_128-1937insAGATA | ||
| ENST00000503026.5:c.467+20_467+21insAGATA | ENSP00000423318.1:n.467+20_467+21insAGATA | |
| ENST00000503454.5:c.419+20_419+21insAGATA | ||
| ENST00000506600.1:c.251+20_251+21insAGATA | ENSP00000423052.1:n.251+20_251+21insAGATA | |
| ENST00000511700.1:c.445+20_445+21insAGATA | ENSP00000423087.1:n.445+20_445+21insAGATA | |
| ENST00000512975.5:c.106-1938_106-1937insAGATA | ENSP00000425751.1:n.106-1938_106-1937insAGATA | |
| ENST00000515390.5:c.365+20_365+21insAGATA | ENSP00000426923.1:n.365+20_365+21insAGATA | |
| ENST00000515676.5:c.416+20_416+21insAGATA | ENSP00000427297.1:n.416+20_416+21insAGATA | |
| ENST00000625723.1:c.106-1938_106-1937insAGATA | ENSP00000487128.1:n.106-1938_106-1937insAGATA | |
| NM_001306153.1:c.467+20_467+21insAGATA | NP_001293082.1:n.467+20_467+21insAGATA | |
| NM_001306154.1:c.365+20_365+21insAGATA | NP_001293083.1:n.365+20_365+21insAGATA | |
| NM_001306155.1:c.251+20_251+21insAGATA | NP_001293084.1:n.251+20_251+21insAGATA | |
| NM_001306156.1:c.416+20_416+21insAGATA | NP_001293085.1:n.416+20_416+21insAGATA | |
| NM_012073.3:c.530+20_530+21insAGATA , LRG_361t1:c.530+20_530+21insAGATA | NP_036205.1:n.530+20_530+21insAGATA | |
| NM_012073.4:c.530+20_530+21insAGATA | NP_036205.1:n.530+20_530+21insAGATA | |
| NM_012073.5:c.530+20_530+21insAGATA MANE Select | NP_036205.1:n.530+20_530+21insAGATA | |
| NM_001306154.2:c.365+20_365+21insAGATA | NP_001293083.1:n.365+20_365+21insAGATA | |
| NM_001306155.2:c.251+20_251+21insAGATA | NP_001293084.1:n.251+20_251+21insAGATA | |
| NM_001306156.2:c.416+20_416+21insAGATA | NP_001293085.1:n.416+20_416+21insAGATA |