Linked Data
dbSNP Id:
rs1761404818
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.38682968_38682969insTGATATATGTAGATTTGTGTGATTTTGTATTAT , CM000668.2:g.38682968_38682969insTGATATATGTAGATTTGTGTGATTTTGTATTAT | GRCh38 |
| NC_000006.11:g.38650744_38650745insTGATATATGTAGATTTGTGTGATTTTGTATTAT , CM000668.1:g.38650744_38650745insTGATATATGTAGATTTGTGTGATTTTGTATTAT | GRCh37 |
| NC_000006.10:g.38758722_38758723insTGATATATGTAGATTTGTGTGATTTTGTATTAT | NCBI36 |
| NG_012074.1:g.25208_25209insATAATACAAAATCACACAAATCTACATATATCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373365.5:c.309-94_309-93insATAATACAAAATCACACAAATCTACATATATCA MANE Select | ENSP00000362463.3:n.309-94_309-93insATAATACAAAATCACACAAATCTAC... | |
| ENST00000373365.4:c.309-94_309-93insATAATACAAAATCACACAAATCTACATATATCA | ENSP00000362463.3:n.309-94_309-93insATAATACAAAATCACACAAATCTAC... | |
| ENST00000470973.1:n.247_248insATAATACAAAATCACACAAATCTACATATATCA | ||
| NM_006708.2:c.309-94_309-93insATAATACAAAATCACACAAATCTACATATATCA | NP_006699.2:n.309-94_309-93insATAATACAAAATCACACAAATCTACATATAT... | |
| NM_006708.3:c.309-94_309-93insATAATACAAAATCACACAAATCTACATATATCA MANE Select | NP_006699.2:n.309-94_309-93insATAATACAAAATCACACAAATCTACATATAT... |